CA5A Chromosome 16
Carbonic anhydrase 5A
Upload your DNA to see your personal genotypes for variants in CA5A.
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. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Carbonic anhydrases
Locus Type
gene with protein product
Location
16q24.2
Ensembl
ENSG00000174990
Associated Conditions (3)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Inborn genetic diseases
CA5A-related disorder
Key Variants
RS113386477
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS142182110
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS147623570
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS200539625
Conflicting classifications of pathogenicity
CA5A-related disorder, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, CA5A-related disorder
Health Risk
RS201195769
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS369629290
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS375321548
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, CA5A-related disorder, Inborn genetic diseases
Health Risk
RS534860826
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS565675541
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS587777316
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS762768981
Conflicting classifications of pathogenicity
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
RS1232431574
Likely pathogenic
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113386477 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS142182110 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS147623570 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS200539625 | Health Risk | Conflicting classifications of pathogenicity | CA5A-related disorder, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, CA5A-related disorder |
| RS201195769 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS369629290 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS375321548 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, CA5A-related disorder, Inborn genetic diseases |
| RS534860826 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS565675541 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS587777316 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS762768981 | Health Risk | Conflicting classifications of pathogenicity | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS1232431574 | Health Risk | Likely pathogenic | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS2055884613 | Health Risk | Likely pathogenic | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS1391715924 | Health Risk | Pathogenic | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS753677978 | Health Risk | Pathogenic | CA5A-related disorder, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, CA5A-related disorder |
| RS767402215 | Health Risk | Pathogenic | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| RS563971993 | Health Risk | Pathogenic/Likely pathogenic | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |