rs143145032
This variant is located in the CAPN9 gene.
▶ClinVar annotation
not provided; Malignant tumor of urinary bladder; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Gastric cancer; Clear cell carcinoma of kidney; Melanoma
View on ClinVar →About CAPN9
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]
View all CAPN9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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