CA4 Chromosome 17

Carbonic anhydrase 4
29 variants 29 Health Risk

Upload your DNA to see your personal genotypes for variants in CA4.

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
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
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