| Gene Symbol | SH3PXD2B |
| Entrez Gene ID | 285590 |
| Full Name | SH3 and PX domains 2B |
| Synonyms | FAD49,FTHS,HOFI,KIAA1295,TKS4,TSK4 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. |
| Disorder MIM: | |
| Disorder Html: | Frank-ter Haar syndrome, 249420 (3) |







































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