CA1
carbonic anhydrase 1
Summary
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. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs766788186 | 8:86,240,805 | A/G | — | uncertain significance |
| rs121909577 | 8:86,240,815 | C/G | missense variant | pathogenic |
| rs121909578 | 8:86,240,835 | C/T | missense variant | pathogenic |
| rs371314891 | 8:86,240,856 | A/G | — | uncertain significance |
| rs754627939 | 8:86,240,881 | A/T | — | uncertain significance |
| rs762656239 | 8:86,240,899 | G/T | — | uncertain significance |
| rs7827474 | 8:86,241,688 | G/C | intron variant | — |
| rs377158037 | 8:86,241,942 | C/G | — | uncertain significance |
| rs61734484 | 8:86,242,000 | G/A | — | benign |
| rs142569626 | 8:86,242,037 | T/C | — | uncertain significance |
| rs61734485 | 8:86,244,732 | G/A | — | benign |
| rs7821248 | 8:86,245,776 | G/A | — | benign |
| rs144746190 | 8:86,245,844 | G/A | — | benign |
| rs202131223 | 8:86,249,176 | C/T | — | uncertain significance |
| rs1564023422 | 8:86,249,214 | C/T | — | uncertain significance |
| rs1257136784 | 8:86,249,221 | C/T | — | uncertain significance |
| rs765511895 | 8:86,250,569 | A/T | — | uncertain significance |
| rs1366279124 | 8:86,250,627 | G/C | — | uncertain significance |
| rs772485661 | 8:86,250,651 | G/A | — | uncertain significance |
| rs775760764 | 8:86,250,652 | G/A | — | uncertain significance |
| rs142714972 | 8:86,253,182 | G/A | intron variant | — |
| rs1496532 | 8:86,253,982 | C/T | intron variant | — |
| rs12544332 | 8:86,256,210 | C/A | intron variant | — |
| rs79569380 | 8:86,260,859 | C/T | intron variant | — |
| rs7841425 | 8:86,264,813 | C/A | — | — |
| rs144362705 | 8:86,264,928 | C/T | intron variant | — |
| rs725605 | 8:86,266,886 | C/G | — | — |
| rs1532423 | 8:86,268,313 | A/T | — | — |
| rs7824715 | 8:86,278,377 | C/G | intron variant | — |
| rs113198319 | 8:86,279,697 | G/T | intron variant | — |
| rs13273654 | 8:86,286,557 | A/G | intron variant | — |
| rs117072514 | 8:86,289,116 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.