CA4 Chromosome 17
Carbonic anhydrase 4
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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. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Carbonic anhydrases
Locus Type
gene with protein product
Location
17q23.1
Ensembl
ENSG00000167434
Associated Conditions (5)
Retinitis pigmentosa 17
Retinitis pigmentosa
CA4-related disorder
Retinal dystrophy
Lung cancer
Key Variants
RS104894559
Conflicting classifications of pathogenicity
Retinitis pigmentosa 17, Retinitis pigmentosa, CA4-related disorder
Health Risk
RS1195746445
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS121434552
Conflicting classifications of pathogenicity
Retinitis pigmentosa 17, Retinal dystrophy, Retinitis pigmentosa 17
Health Risk
RS140515828
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Lung cancer, Retinitis pigmentosa
Health Risk
RS1443641252
Conflicting classifications of pathogenicity
Health Risk
RS144467811
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS150432787
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS185476073
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS185658468
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, CA4-related disorder
Health Risk
RS187221698
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS201580764
Conflicting classifications of pathogenicity
Health Risk
RS2229178
Conflicting classifications of pathogenicity
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894559 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 17, Retinitis pigmentosa, CA4-related disorder |
| RS1195746445 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS121434552 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 17, Retinal dystrophy, Retinitis pigmentosa 17 |
| RS140515828 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Lung cancer, Retinitis pigmentosa |
| RS1443641252 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144467811 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS150432787 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS185476073 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS185658468 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, CA4-related disorder |
| RS187221698 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS201580764 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2229178 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2544519897 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS530720914 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 17, CA4-related disorder, Retinitis pigmentosa 17 |
| RS563335203 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS756230727 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, CA4-related disorder, Retinitis pigmentosa |
| RS764759588 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1465980897 | Health Risk | Likely pathogenic | — |
| RS1567730151 | Health Risk | Likely pathogenic | — |
| RS1597993822 | Health Risk | Likely pathogenic | — |
| RS2083714751 | Health Risk | Likely pathogenic | — |
| RS2145264107 | Health Risk | Likely pathogenic | — |
| RS2145274818 | Health Risk | Likely pathogenic | — |
| RS2544528483 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS767868852 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS769858478 | Health Risk | Likely pathogenic | — |
| RS980055405 | Health Risk | Likely pathogenic | — |
| RS1050024952 | Health Risk | Pathogenic | — |
| RS1402202023 | Health Risk | Pathogenic | — |