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SH3PXD2B

Official Full Name
SH3 and PX domains 2B
Organism
Homo sapiens
GeneID
285590
Background
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]
Synonyms
FTHS; HOFI; TKS4; TSK4; FAD49; KIAA1295;

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