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Gene : ABAT Homo sapiens

Name  ? 4-aminobutyrate aminotransferase Cytological Location  16p13.2
Brief Description  4-aminobutyrate aminotransferase
description  4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000048201,
  • ABAT,
  • NPD009,
  • uc002czc.5,
  • L32961,
  • GABAT,
  • GABA-AT,
  • NM_020686,
  • GABAT,
  • GABA-T,
  • HGNC:23,
  • GABA transaminase,
  • gamma-aminobutyrate aminotransferase,
  • 4-aminobutyrate transaminase
  • identifiers:
  • 18,
  • ENSG00000183044,
  • ABAT

Genome feature

Region: gene ? Length: 109989  
Location: 16:8674587-8784575 Cyto location: 16p13.2


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Disease

1 Diseases

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689 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results