Carbonic Anhydrase VA

Alternative Names

  • CA5A
  • Carbonic Anhydrase, Mitochondrial
  • Carbonic Anhydrase 5
  • CA5
  • CA V
  • CA VA
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OMIM Number

114761

NCBI Gene ID

114761

Uniprot ID

P35218

Length

54,981 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Carbonic anhydrase 5A, mitochondrial

Molecular Mass

34750 Da

Amino Acid Count

305

Genomic Location

chr16:87,881,549-87,936,529

Gene Map Locus
16q24.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001739.2:c.721G>AQatarNC_000016.10:g.87891852C>TLikely Pathogenic, PathogenicLikely PathogenicNG_033227.2:g.49678G>A; NM_001739.2:c.721G>A; NP_001730.1:p.Glu241Lys563971993388645
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