CA5A
Chr 16ARcarbonic anhydrase 5A
Also known as: CA5, CA5AD, CAV, CAVA, GS1-21A4.1
The carbonic anhydrase VA protein catalyzes the reversible conversion of carbon dioxide to bicarbonate within mitochondria, providing bicarbonate for essential enzymes in the urea and Krebs cycles. Autosomal recessive mutations cause hyperammonemia due to carbonic anhydrase VA deficiency, disrupting ureagenesis and gluconeogenesis primarily in the liver. The pathogenic mechanism involves loss of function of this mitochondrial enzyme.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
312 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 1 | 52 | 0 | 55 |
Likely Pathogenic | 2 | 1 | 10 | 0 | 13 |
VUS | 1 | 103 | 23 | 1 | 128 |
Likely Benign | 0 | 7 | 28 | 53 | 88 |
Benign | 0 | 2 | 5 | 3 | 10 |
Conflicting | — | 11 | |||
| Total | 5 | 114 | 118 | 57 | 305 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CA5A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools