BOLA3 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	BOLA3
Entrez Gene ID	388962
Full Name	bolA family member 3
Synonyms	MMDS2
General protein information	Preferred Names bolA family member 3 Names bolA-like protein 3 bolA homolog 3
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 2 Map Location: 2p13.1
Summary	This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011].
Disorder MIM:	613183
Disorder Html:	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_212552.2	NP_997717.2	bolA-like protein 3 isoform 1
NM_001035505.2	NP_001030582.1	bolA-like protein 3 isoform 2
NM_212552.3	NP_997717.2	bolA-like protein 3 isoform 1
NM_001035505.1	NP_001030582.1	bolA-like protein 3 isoform 2

Pathways from BioSystems

Homologies

Homo sapiens (human)	BOLA3	NP_997717.2
	BOLA3	XP_001107450.1
Rattus norvegicus (Norway rat)	Bola3	NP_001100071.1
Mus musculus (house mouse)	Bola3	NP_780486.1
Canis lupus familiaris (dog)	BOLA3	XP_855121.1
Danio rerio (zebrafish)	zgc:100870	NP_001003525.1
Xenopus tropicalis (tropical clawed frog)	bola3	NP_001037940.1
Pan troglodytes (chimpanzee)	BOLA3	XP_515554.1
Bos taurus (cattle)	BOLA3	NP_001030529.1

Gene Ontology
Bibliography

Related articles in PubMed

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL
Brain : a journal of neurology137(Pt 2)366-79(2014 Feb)

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H
Journal of inherited metabolic disease36(1)55-62(2013 Jan)

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion.
Willems P, Wanschers BF, Esseling J, Szklarczyk R, Kudla U, Duarte I, Forkink M, Nooteboom M, Swarts H, Gloerich J, Nijtmans L, Koopman W, Huynen MA
Antioxidants & redox signaling18(2)129-38(2013 Jan)

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH
American journal of human genetics89(4)486-95(2011 Oct)

A census of human transcription factors: function, expression and evolution.
Vaquerizas JM, Kummerfeld SK, Teichmann SA, Luscombe NM
Nature reviews. Genetics10(4)252-63(2009 04)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Clinical features of BOLA3-associated variant nonketotic hyperglycemia include severe neurodegeneration after a period of normal development.
Title: Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

BOLA3 plays a crucial role in the biogenesis of iron-sulfur clusters.
Title: Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes [case report]
Title: Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

This study reported that all three human BolA proteins (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted proteins identified with bioinformatics and molecular biology experiments.
Title: hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence.

The following BOLA3 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the BOLA3 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu15700	NM_001035505.2 Latest version!	Homo sapiens bolA family member 3 (BOLA3), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
OHu17882	NM_212552.3 Latest version!	Homo sapiens bolA family member 3 (BOLA3), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
View Old Accession Versions >>
OHu17882	NM_212552.2	Homo sapiens bolA family member 3 (BOLA3), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
OHu15700	NM_001035505.1	Homo sapiens bolA family member 3 (BOLA3), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
Hide Old Accession Versions >>

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

BOLA3 ( NM_001035505.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001030582.1 Homo sapiens bolA family member 3 (BOLA3), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu15700
Clone ID Related Accession (Same CDS sequence)	NM_001035505.2 , NM_001035505.1
Accession Version	NM_001035505.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 306bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-05-30
Organism	Homo sapiens(human)
Product	bolA-like protein 3 isoform 2
Comment	Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BU600037.1, BC028282.1 and AC073263.5. On May 31, 2019 this sequence version replaced NM_001035505.1. Transcript Variant: This variant (2) lacks an internal coding exon compared to variant 1. This results in a frame-shift and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. This isoform is localized to the cytoplasm (PMID:21944046). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.544587.1, DRR138528.953844.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2152798 [ECO:0000348] ##Evidence-Data-END##

ATGGCTGCAT GGAGCCCGGC CGCGGCAGCG CCTCTCCTCC GCGGGATCCG CGGGCTTCCA 
CTTCACCATC GGATGTTTGC CACTCAGACT GAGGGGGAGC TCAGAGTGAC CCAAATTCTC 
AAAGAAAAGT TTCCACGAGC TACAGCTATA AAAGTCACTG ACATTTCAGG CACTAAAAGA 
AGAAATCAAA GAGATGCATG GATTGCGGAT ATTTACCTCT GTCCCCAAAC GCTGACCACG 
CCCTGGCTGC ATAGATGCTG CTGCTTAAGA CCTTGGATGA ACTTCACTGA CATCATTCTT 
CCCTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001030582.1
CDS	39..344
Translation	MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGTKRRNQRDAWIADIYLCPQTLTTPWLHRCCCLRPWMNFTDIILP

Target ORF information:

RefSeq Version	NM_001035505.2
Organism	Homo sapiens(human)
Definition	Homo sapiens bolA family member 3 (BOLA3), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001035505.2

ORF Insert Sequence:

ATGGCTGCAT GGAGCCCGGC CGCGGCAGCG CCTCTCCTCC GCGGGATCCG CGGGCTTCCA 
CTTCACCATC GGATGTTTGC CACTCAGACT GAGGGGGAGC TCAGAGTGAC CCAAATTCTC 
AAAGAAAAGT TTCCACGAGC TACAGCTATA AAAGTCACTG ACATTTCAGG CACTAAAAGA 
AGAAATCAAA GAGATGCATG GATTGCGGAT ATTTACCTCT GTCCCCAAAC GCTGACCACG 
CCCTGGCTGC ATAGATGCTG CTGCTTAAGA CCTTGGATGA ACTTCACTGA CATCATTCTT 
CCCTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

BOLA3 ( NM_001035505.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001030582.1 Homo sapiens bolA family member 3 (BOLA3), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu15700
Clone ID Related Accession (Same CDS sequence)	NM_001035505.2 , NM_001035505.1
Accession Version	NM_001035505.1	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 306bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2018-07-29
Organism	Homo sapiens(human)
Product	bolA-like protein 3 isoform 2
Comment	Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BU600037.1, BC028282.1 and AC073263.5. Transcript Variant: This variant (2) lacks an internal coding exon compared to variant 1. This results in a frame-shift and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. This isoform is localized to the cytoplasm (PMID:21944046). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: HX784578.1, HX786611.1 [ECO:0000332] ##Evidence-Data-END##

ATGGCTGCAT GGAGCCCGGC CGCGGCAGCG CCTCTCCTCC GCGGGATCCG CGGGCTTCCA 
CTTCACCATC GGATGTTTGC CACTCAGACT GAGGGGGAGC TCAGAGTGAC CCAAATTCTC 
AAAGAAAAGT TTCCACGAGC TACAGCTATA AAAGTCACTG ACATTTCAGG CACTAAAAGA 
AGAAATCAAA GAGATGCATG GATTGCGGAT ATTTACCTCT GTCCCCAAAC GCTGACCACG 
CCCTGGCTGC ATAGATGCTG CTGCTTAAGA CCTTGGATGA ACTTCACTGA CATCATTCTT 
CCCTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001030582.1
CDS	39..344
Translation	MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGTKRRNQRDAWIADIYLCPQTLTTPWLHRCCCLRPWMNFTDIILP

Target ORF information:

RefSeq Version	NM_001035505.1
Organism	Homo sapiens(human)
Definition	Homo sapiens bolA family member 3 (BOLA3), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001035505.1

ORF Insert Sequence:

ATGGCTGCAT GGAGCCCGGC CGCGGCAGCG CCTCTCCTCC GCGGGATCCG CGGGCTTCCA 
CTTCACCATC GGATGTTTGC CACTCAGACT GAGGGGGAGC TCAGAGTGAC CCAAATTCTC 
AAAGAAAAGT TTCCACGAGC TACAGCTATA AAAGTCACTG ACATTTCAGG CACTAAAAGA 
AGAAATCAAA GAGATGCATG GATTGCGGAT ATTTACCTCT GTCCCCAAAC GCTGACCACG 
CCCTGGCTGC ATAGATGCTG CTGCTTAAGA CCTTGGATGA ACTTCACTGA CATCATTCTT 
CCCTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

BOLA3 ( NM_212552.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_997717.2 Homo sapiens bolA family member 3 (BOLA3), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu17882
Clone ID Related Accession (Same CDS sequence)	NM_212552.2 , NM_212552.3
Accession Version	NM_212552.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 324bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-10-01
Organism	Homo sapiens(human)
Product	bolA-like protein 3 isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BU600037.1, DQ225187.1, BC017744.2 and AI652095.1. This sequence is a reference standard in the RefSeqGene project. On Nov 1, 2005 this sequence version replaced NM_212552.1. Transcript Variant: This variant (1) encodes the longer isoform (1), which is localized to the mitochondria (PMID:21944046). ##Evidence-Data-START## Transcript exon combination :: BJ995363.1, SRR1163658.105509.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2152798 [ECO:0000348] ##Evidence-Data-END##

ATGGCTGCAT GGAGCCCGGC CGCGGCAGCG CCTCTCCTCC GCGGGATCCG CGGGCTTCCA 
CTTCACCATC GGATGTTTGC CACTCAGACT GAGGGGGAGC TCAGAGTGAC CCAAATTCTC 
AAAGAAAAGT TTCCACGAGC TACAGCTATA AAAGTCACTG ACATTTCAGG AGGTTGTGGG 
GCGATGTATG AAATTAAAAT TGAATCAGAA GAATTTAAGG AGAAGAGAAC TGTCCAGCAG 
CACCAGATGG TTAATCAGGC ACTAAAAGAA GAAATCAAAG AGATGCATGG ATTGCGGATA 
TTTACCTCTG TCCCCAAACG CTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_997717.2
CDS	39..362
Translation	MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGGCGAMYEIKIESEEFKEKRTVQQHQMVNQALKEEIKEMHGLRIFTSVPKR

Target ORF information:

RefSeq Version	NM_212552.2
Organism	Homo sapiens(human)
Definition	Homo sapiens bolA family member 3 (BOLA3), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_212552.2

ORF Insert Sequence:

ATGGCTGCAT GGAGCCCGGC CGCGGCAGCG CCTCTCCTCC GCGGGATCCG CGGGCTTCCA 
CTTCACCATC GGATGTTTGC CACTCAGACT GAGGGGGAGC TCAGAGTGAC CCAAATTCTC 
AAAGAAAAGT TTCCACGAGC TACAGCTATA AAAGTCACTG ACATTTCAGG AGGTTGTGGG 
GCGATGTATG AAATTAAAAT TGAATCAGAA GAATTTAAGG AGAAGAGAAC TGTCCAGCAG 
CACCAGATGG TTAATCAGGC ACTAAAAGAA GAAATCAAAG AGATGCATGG ATTGCGGATA 
TTTACCTCTG TCCCCAAACG CTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

BOLA3 ( NM_212552.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_997717.2 Homo sapiens bolA family member 3 (BOLA3), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu17882
Clone ID Related Accession (Same CDS sequence)	NM_212552.2 , NM_212552.3
Accession Version	NM_212552.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 324bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-08-21
Organism	Homo sapiens(human)
Product	bolA-like protein 3 isoform 1
Comment	Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BU600037.1, DQ225187.1 and AC073263.5. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_212552.2. Transcript Variant: This variant (1) encodes the longer isoform (1), which is localized to the mitochondria (PMID:21944046). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.105509.1, SRR1163657.534056.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2152798 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000327428.10/ ENSP00000331369.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCTGCAT GGAGCCCGGC CGCGGCAGCG CCTCTCCTCC GCGGGATCCG CGGGCTTCCA 
CTTCACCATC GGATGTTTGC CACTCAGACT GAGGGGGAGC TCAGAGTGAC CCAAATTCTC 
AAAGAAAAGT TTCCACGAGC TACAGCTATA AAAGTCACTG ACATTTCAGG AGGTTGTGGG 
GCGATGTATG AAATTAAAAT TGAATCAGAA GAATTTAAGG AGAAGAGAAC TGTCCAGCAG 
CACCAGATGG TTAATCAGGC ACTAAAAGAA GAAATCAAAG AGATGCATGG ATTGCGGATA 
TTTACCTCTG TCCCCAAACG CTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_997717.2
CDS	39..362
Translation	MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGGCGAMYEIKIESEEFKEKRTVQQHQMVNQALKEEIKEMHGLRIFTSVPKR

Target ORF information:

RefSeq Version	NM_212552.3
Organism	Homo sapiens(human)
Definition	Homo sapiens bolA family member 3 (BOLA3), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_212552.3

ORF Insert Sequence:

ATGGCTGCAT GGAGCCCGGC CGCGGCAGCG CCTCTCCTCC GCGGGATCCG CGGGCTTCCA 
CTTCACCATC GGATGTTTGC CACTCAGACT GAGGGGGAGC TCAGAGTGAC CCAAATTCTC 
AAAGAAAAGT TTCCACGAGC TACAGCTATA AAAGTCACTG ACATTTCAGG AGGTTGTGGG 
GCGATGTATG AAATTAAAAT TGAATCAGAA GAATTTAAGG AGAAGAGAAC TGTCCAGCAG 
CACCAGATGG TTAATCAGGC ACTAAAAGAA GAAATCAAAG AGATGCATGG ATTGCGGATA 
TTTACCTCTG TCCCCAAACG CTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Brain : a journal of neurology137(Pt 2)366-79(2014 Feb)
Baker PR 2nd,Friederich MW,Swanson MA,Shaikh T,Bhattacharya K,Scharer GH,Aicher J,Creadon-Swindell G,Geiger E,MacLean KN,Lee WT,Deshpande C,Freckmann ML,Shih LY,Wasserstein M,Rasmussen MB,Lund AM,Procopis P,Cameron JM,Robinson BH,Brown GK,Brown RM,Compton AG,Dieckmann CL,Collard R,Coughlin CR 2nd,Spector E,Wempe MF,Van Hove JL

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.
Journal of inherited metabolic disease36(1)55-62(2013 Jan)
Haack TB,Rolinski B,Haberberger B,Zimmermann F,Schum J,Strecker V,Graf E,Athing U,Hoppen T,Wittig I,Sperl W,Freisinger P,Mayr JA,Strom TM,Meitinger T,Prokisch H

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion.
Antioxidants & redox signaling18(2)129-38(2013 Jan)
Willems P,Wanschers BF,Esseling J,Szklarczyk R,Kudla U,Duarte I,Forkink M,Nooteboom M,Swarts H,Gloerich J,Nijtmans L,Koopman W,Huynen MA

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
American journal of human genetics89(4)486-95(2011 Oct)
Cameron JM,Janer A,Levandovskiy V,Mackay N,Rouault TA,Tong WH,Ogilvie I,Shoubridge EA,Robinson BH

A census of human transcription factors: function, expression and evolution.
Nature reviews. Genetics10(4)252-63(2009 04)
Vaquerizas JM,Kummerfeld SK,Teichmann SA,Luscombe NM

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BOLA3 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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Services & Products

見積依頼

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電話

FAX

オンラインフォーム