Gene Symbol | SNX14 |
Entrez Gene ID | 57231 |
Full Name | sorting nexin 14 |
Synonyms | RGS-PX2,SCAR20 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia, autosomal recessive 20, 616354 (3) |