CA5A carbonic anhydrase 5A

Gene ID: 763, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CA5; CAV; CAVA; CA5AD; GS1-21A4.1

Summary

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MedGen: C3810404OMIM: 615751GeneReviews: Carbonic Anhydrase VA Deficiency	See labs

Genomic context

Location:: 16q24.2

Sequence:: Chromosome: 16; NC_000016.10 (87881549..87936529, complement)

Total number of exons:: 11

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CA5A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CA5A homepage
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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