Entity Details
| Primary name |
CAH5A_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P35218 |
| EntryName | CAH5A_HUMAN |
| FullName | Carbonic anhydrase 5A, mitochondrial |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 305 |
| SequenceStatus | complete |
| DateCreated | 1994-02-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion |
Domains
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| Domain | Name | Category | Type |
| IPR001148 | Alpha carbonic anhydrase domain | Domain | Domain |
| IPR018338 | Carbonic anhydrase, alpha-class, conserved site | Site | Conserved site |
| IPR023561 | Carbonic anhydrase, alpha-class | Family | Family |
| IPR036398 | Alpha carbonic anhydrase domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 615751 | OMIM | Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) | An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00562 | Benzthiazide | Drugbank | small molecule |
| DB00606 | Cyclothiazide | Drugbank | small molecule |
| DB00909 | Zonisamide | Drugbank | small molecule |
| DB01194 | Brinzolamide | Drugbank | small molecule |
| DB03385 | 4-Methylimidazole | Drugbank | small molecule |
| DB08846 | Ellagic acid | Drugbank | small molecule |
Interactions
2 interactions