CAPN9 Summary

Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CAPN9 Details

Gene Symbol : CAPN9

Gene Name : Calpain 9

Chromosome : CHR 1: 230,747,288-230,803,355

Locus : 1q42.2

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ARV1 Summary

this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]

ARV1 Details

Gene Symbol : ARV1

Gene Name : ARV1 homolog, fatty acid homeostasis modulator

Chromosome : CHR 1: 230,979,074-231,000,732

Locus : 1q42.2

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