CA12 Chromosome 15
Carbonic anhydrase 12
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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
RS148438059
Conflicting classifications of pathogenicity
Isolated hyperchlorhidrosis, Melanoma, Colon adenocarcinoma
Health Risk
RS757974800
Likely pathogenic
Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
Health Risk
RS267606694
Pathogenic
Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
Health Risk
RS775067652
Pathogenic
Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
Health Risk
RS879253800
Pathogenic
Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
Health Risk
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 |