Aliases for SNTG1 Gene
External Ids for SNTG1 Gene
Previous GeneCards Identifiers for SNTG1 Gene
The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
GeneCards Summary for SNTG1 Gene
SNTG1 (Syntrophin Gamma 1) is a Protein Coding gene. Diseases associated with SNTG1 include Idiopathic Scoliosis and Basal Ganglia Calcification. GO annotations related to this gene include actin binding and protein C-terminus binding. An important paralog of this gene is SNTG2.
UniProtKB/Swiss-Prot for SNTG1 Gene
Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation.