ABAT

GENE INFORMATION

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Gene name

ABAT (HGNC Symbol)

Synonyms

GABAT

Description

4-aminobutyrate aminotransferase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

16 (Chromosome progress)

Cytoband

p13.2

Chromosome location (bp)

8768422 - 8878432

Ensembl

ENSG00000183044 (version 73.37)

Entrez gene

18

UniProt

P80404 (UniProt - Evidence at protein level)

neXtProt

NX_P80404

Antibodypedia

ABAT antibodies
 

PROTEIN VIEW

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 « 
 
ABAT-001
 
ABAT-002
 
ABAT-003
 
ABAT-005
 
ABAT-006
 
ABAT-008
 
ABAT-009
 
ABAT-011
 
ABAT-012
 
ABAT-013
 
ABAT-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABAT-001 ENSP00000268251
ENST00000268251
P80404
Show all »
Show » Show » 500 56.4 No 0
ABAT-002 ENSP00000455198
ENST00000566590
H3BP84
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53 6.1 No 0
ABAT-003 ENSP00000456330
ENST00000567812
H3BRN4
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Show » Show » 515 58.1 No 0
ABAT-005 ENSP00000411916
ENST00000425191
P80404
Show all »
Show » Show » 500 56.4 No 0
ABAT-006 ENSP00000454963
ENST00000569156
H3BNQ7
Show all »
Show » Show » 515 57.9 No 0
ABAT-008 ENSP00000456392
ENST00000564714
H3BRT1
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Show » 95 10.7 No 0
ABAT-009 ENSP00000455184
ENST00000568847
H3BP74
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Show » 32 3.5 No 0
ABAT-011 ENSP00000455502
ENST00000562115
H3BPW8
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Show » 117 13.1 No 0
ABAT-012 ENSP00000454415
ENST00000565016
H3BMJ9
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Show » 91 10.2 No 0
ABAT-013 ENSP00000456267
ENST00000561870
H3BRJ1
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Show » 65 7.3 No 0
ABAT-201 ENSP00000379845
ENST00000396600
P80404
Show all »
Show » Show » 500 56.4 No 0