CA12 Chromosome 15

Carbonic anhydrase 12
5 variants 5 Health Risk

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What This Gene Does
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Carbonic anhydrases
Locus Type
gene with protein product
Location
15q22.2
Ensembl
ENSG00000074410
Associated Conditions (3)
Isolated hyperchlorhidrosis
Melanoma
Colon adenocarcinoma
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS148438059 Health Risk Conflicting classifications of pathogenicity Isolated hyperchlorhidrosis, Melanoma, Colon adenocarcinoma
RS757974800 Health Risk Likely pathogenic Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
RS267606694 Health Risk Pathogenic Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
RS775067652 Health Risk Pathogenic Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
RS879253800 Health Risk Pathogenic Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
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