Entity Details

Primary name CA5A
Entity type gene
Source Source Link

Details

PrimaryID763
RefseqGeneNG_033227
SymbolCA5A
Namecarbonic anhydrase 5A
Chromosome16
Location16q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-04-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCAH5A_HUMAN

GO terms

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GOName
GO:0004089 carbonate dehydratase activity
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006730 one-carbon metabolic process
GO:0008270 zinc ion binding
GO:0015701 bicarbonate transport
GO:0016836 hydro-lyase activity

Diseases

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Disease IDSourceNameDescription
615751 OMIMHyperammonemia 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.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
CA5ALMNABioGRID26490262 details
CA5ATUBB3BioGRID26490262 details
CA5ASIRT3BioGRID, IntAct28514442 details
CA5APMPCABioGRID, IntAct28514442 details
CA5ARNF123BioGRID29676528 details