CA5A Gene - Carbonic Anhydrase 5A
Mitochondrial Carbonic Anhydrase VA: Function, Disease, and Expression
Gene Information Card
| Symbol | CA5A |
|---|---|
| Full Name | Carbonic Anhydrase 5A |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 763 ncbi.nlm.nih.gov/gene/763 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | P35218 |
| OMIM ID | 114761 |
| HGNC ID | 1377 |
| Aliases | CA5, CAV, CAVA |
Description
CA5A encodes carbonic anhydrase VA, a mitochondrial enzyme that catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons. This enzyme is critical for the urea cycle and gluconeogenesis by providing bicarbonate for carbamoyl phosphate synthetase I. Deficiency leads to hyperammonemia due to impaired ureagenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carbonic anhydrase VA deficiency (hyperammonemia) | Loss of mitochondrial bicarbonate production impairs carbamoyl phosphate synthetase I activity, disrupting the urea cycle and causing ammonia accumulation. | ClinVar, OMIM #114761 |
| Hyperammonemia, infantile | Biallelic CA5A mutations reduce enzyme activity, leading to recurrent hyperammonemic crises. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Pancreas | 6.1 | Low |
| Brain | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 4.5 | Embryonic kidney cells |
| HeLa | 2.1 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein |
| c.232C>T (p.Arg78Trp) | Missense | Rare | Reduced catalytic activity |
| c.499C>T (p.Arg167Trp) | Missense | Rare | Impaired enzyme function |
Mutation functional classification
Loss of Function (LOF)
Most CA5A mutations are loss-of-function, reducing or abolishing carbonic anhydrase activity, leading to hyperammonemia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • carbonate dehydratase activity | • zinc ion binding |
| • mitochondrion | • one-carbon metabolic process |
| • bicarbonate transport |
Pathways
• Urea cycle
• Metabolism of carbon dioxide
• Gluconeogenesis
Protein Summary
Carbonic anhydrase VA is a 305-amino acid mitochondrial protein that catalyzes CO2 hydration. It provides bicarbonate for the urea cycle and is essential for ammonia detoxification. Deficiency causes hyperammonemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA5A Knockout HEK293 Cell Line | EDJ-KQ4171 | Human | 763 | Details Get a Quote |
| CA5A Knockout HeLa Cell Line | EDJ-KQ52764 | Human | 763 | Details Get a Quote |
| CA5A Knockout A-549 Cell Line | EDJ-KQ61234 | Human | 763 | Details Get a Quote |
| CA5A Knockout HCT 116 Cell Line | EDJ-KQ69732 | Human | 763 | Details Get a Quote |
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