| Gene Symbol | IFT43 |
| Entrez Gene ID | 112752 |
| Full Name | intraflagellar transport 43 |
| Synonyms | C14orf179,CED3 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. |
| Disorder MIM: | |
| Disorder Html: | Cranioectodermal dysplasia 3, 614099 (3) |








































User Manual