ABAT (4-aminobutyrate aminotransferase)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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18 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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4-aminobutyrate aminotransferase |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ABAT |
Synonyms (NCBI Gene)
Gene synonyms aliases
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GABA-AT, GABAT, NPD009 |
Chromosome
Chromosome number
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16 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p13.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other 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
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Tissue specificity | TISSUE SPECIFICITY: Liver > pancreas > brain > kidney > heart > placenta. {ECO:0000269|PubMed:7851425}. | ||||||||||
Sequence | |||||||||||
Sequence length | 500 | ||||||||||
Interactions | View interactions |
Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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