Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
18 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
4-aminobutyrate aminotransferase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ABAT |
SynonymsGene synonyms aliases
|
GABA-AT, GABAT, NPD009 |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16p13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121434578 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs150914629 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs724159990 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs724159991 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs724159992 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs781555217 |
G>A,C,T |
Pathogenic |
Coding sequence variant, missense variant |
rs786205496 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057523345 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
rs1330995774 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1555492932 |
A>G |
Pathogenic |
Splice acceptor variant |
rs1555494322 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs1567300736 |
G>A |
Pathogenic |
Splice donor variant |
rs1567310537 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1567312671 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
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Protein
|
UniProt ID |
P80404 |
Protein name |
4-aminobutyrate aminotransferase, mitochondrial (EC 2.6.1.19) ((S)-3-amino-2-methylpropionate transaminase) (EC 2.6.1.22) (GABA aminotransferase) (GABA-AT) (Gamma-amino-N-butyrate transaminase) (GABA transaminase) (GABA-T) (L-AIBAT) |
Protein function |
Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively (PubMed:10407778, PubMed:15528998). Can also convert delta-aminovalerate and beta-alanine (By sim |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00202 |
Aminotran_3 |
65 → 496 |
Aminotransferase class-III |
Domain |
|
Sequence |
|
Sequence length |
500 |
Interactions |
View interactions |