NP_000265.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
32,853 Da
NCBI Official Full Name
ornithine aminotransferase, mitochondrial isoform 1
NCBI Official Synonym Full Names
ornithine aminotransferase
NCBI Protein Information
ornithine aminotransferase, mitochondrial; gyrate atrophy; ornithine delta-aminotransferase; ornithine-oxo-acid aminotransferase
UniProt Protein Name
Ornithine aminotransferase, mitochondrial
UniProt Synonym Protein Names
Ornithine delta-aminotransferase; Ornithine--oxo-acid aminotransferaseCleaved into the following 2 chains:Ornithine aminotransferase, hepatic form; Ornithine aminotransferase, renal form
UniProt Entry Name
OAT_HUMAN
NCBI Summary for OAT
This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]
UniProt Comments for OAT
OAT: Defects in OAT are the cause of hyperornithinemia with gyrate atrophy of choroid and retina (HOGA). HOGA is a slowly progressive blinding autosomal recessive disorder. Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transferase; Mitochondrial; Amino Acid Metabolism - arginine and proline; EC 2.6.1.13
Chromosomal Location of Human Ortholog: 10q26
Cellular Component: mitochondrion; mitochondrial matrix
Molecular Function: ornithine-oxo-acid transaminase activity; pyridoxal phosphate binding
Biological Process: visual perception; amino acid biosynthetic process
Disease: Gyrate Atrophy Of Choroid And Retina
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Products associated with anti-OAT antibody
Pathways associated with anti-OAT antibody
Diseases associated with anti-OAT antibody
Organs/Tissues associated with anti-OAT antibody
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