Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	305	16q24.2	CA5A	carbonic anhydrase 5A
Mouse	-	299	8 70.81 cM	Car5a	carbonic anhydrase 5a, mitochondrial
Rat	-	304	19q12	Car5a	carbonic anhydrase 5A

Previous and Unofficial Names

carbonic anhydrase 5a, mitochondrial | carbonic anhydrase 5a | Ca5a

Database Links
Alphafold	P35218 (Hs), P23589 (Mm), P43165 (Rn)
BRENDA	4.2.1.1
ChEMBL Target	CHEMBL4789 (Hs)
Ensembl Gene	ENSG00000174990 (Hs), ENSMUSG00000025317 (Mm), ENSRNOG00000019098 (Rn)
Entrez Gene	763 (Hs), 12352 (Mm), 54233 (Rn)
Human Protein Atlas	ENSG00000174990 (Hs)
KEGG Enzyme	4.2.1.1
KEGG Gene	hsa:763 (Hs), mmu:12352 (Mm), rno:54233 (Rn)
OMIM	114761 (Hs)
Pharos	P35218 (Hs)
RefSeq Nucleotide	NM_001739 (Hs), NM_007608 (Mm), NM_019293 (Rn)
RefSeq Protein	NP_001730 (Hs), NP_031634 (Mm), NP_062166 (Rn)
UniProtKB	P35218 (Hs), P23589 (Mm), P43165 (Rn)
Wikipedia	CA5A (Hs)

Enzyme Reaction
EC Number: 4.2.1.1

Download all structure-activity data for this target as a CSV file

Activators
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Reference histamine Hs Activation - - 1 ⤷ KA 10 nM. [1] L-histidine Hs Activation - - 2 ⤷ [2] amphetamine Hs Activation - - 1 ⤷ KA 810 nM. [1]

Clinically-Relevant Mutations and Pathophysiology

Disease:  Hyperammonemia due to carbonic anhydrase VA deficiency Description: A metabolic disease caused by an autosomal recessive homozygous mutation in the CA5A gene. Results in onset of infantile hyperammonemic encephalopathy. This condition is characterised by multiple metabolic abnormalities, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine, and insufficient bicarbonate supply to essential mitochondrial enzymes. OMIM: 615751 Drugs:  carglumic acid Comments:  Carglumic acid can improve neurologic symptoms (hyperammonemic encephalopathy). References:  3

Biologically Significant Variants
Type:  Missense mutation Species:  Human Description:  A missense mutation that reduces enzymatic function. Amino acid change:  Ser233Pro Nucleotide change:  697T>C SNP accession:  rs587777316 References:  3

General Comments
CA VA is expressed predominantly in the liver and localises to mitochondria.