Ornithine Aminotransferase

Alternative Names

  • OAT
  • Ornithine Keto Acid Aminotransferase
  • OKT
  • Ornithine Delta-Aminotransferase
Back to search Result
OMIM Number

613349

NCBI Gene ID

4942

Uniprot ID

P04181

Length

21,674 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Ornithine Aminotransferase, Mitochondrial

Molecular Mass

48535 Da

Amino Acid Count

439

Genomic Location

ch10:124,397,302-124,418,975

Gene Map Locus
10q26.13

Description

The OAT gene encodes a mitochondrial enzyme required for the breakdown of Ornithine. The OAT enzyme catabolises ornithine to pyrroline-5-carboxylate which can then be converted to glutamate and proline. The enzyme hence plays a key role in the cellular amino acid biosynthetic process. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000274.3:c.3G>ALebanonchr10:124412169PathogenicGyrate Atrophy of Choroid and RetinaNG_008861.1:g.11782G>A; NM_000274.3:c.3G>A; NP_000265.1:p.Met1Ile121965034146
NM_000274.4:c.889G>TSudanchr10:124402938Uncertain SignificanceGyrate Atrophy of Choroid and RetinaNG_008861.1:g.21013G>T; NM_000274.4:c.889G>T; NP_001309899.1:p.Gly297Cys
© CAGS 2021. All rights reserved.