syntrophin gamma 2

SYN5

G2SYN

Gamma-2-syntrophin

Syntrophin-5

This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008].

Varaico: Literature-Extracted Genetic Variants

SNTG2

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Alias Symbols