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) |