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MT000097

UniProt Annotations

Entry Information

Gene Name	carbonic anhydrase VA, mitochondrial
Protein Entry	CAH5A_HUMAN
UniProt ID	P35218
Species	Human

Comments

Comment type	Description
Biophysicochemical Properties	Kinetic parameters: KM=10.0 mM for CO(2) {ECO:0000269\|PubMed:18618712};
Catalytic Activity	H(2)CO(3) = CO(2) + H(2)O.
Cofactor	Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250};
Disease	Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) [MIM:615751]: An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. {ECO:0000269\|PubMed:24530203}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Activated by histamine, L-adrenaline, L- and D- histidine, and L- and D-phenylalanine. Inhibited by coumarins, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium salt). {ECO:0000269\|PubMed:16686544, ECO:0000269\|PubMed:16807956, ECO:0000269\|PubMed:17127057, ECO:0000269\|PubMed:17314045, ECO:0000269\|PubMed:18618712, ECO:0000269\|PubMed:19186056, ECO:0000269\|PubMed:19206230}.
Function	Reversible hydration of carbon dioxide. Low activity.
Similarity	Belongs to the alpha-carbonic anhydrase family. {ECO:0000305}.
Subcellular Location	Mitochondrion.