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18 ABAT

18

ABAT

4-aminobutyrate aminotransferase

protein-coding

Homo sapiens

基因描述

Type Description
Definition 4-aminobutyrate aminotransferase

研究结论

Date Results Publications
2019-09-21 11:38:00 ABAT SNP rs1641025 is a potential candidate locus for responsiveness to opioid analgesics in patients with cancer pain. 30277654
2016-02-13 11:45:00 This study utilized ER+ IBC to identify a metagene including ABAT and STC2 as predictive biomarkers for endocrine therapy resistance. 25771305
2015-07-20 09:46:00 A-to-G transition at nucleotide 754 of the human ABAT gene identified in lymphoblast cDNA (c.754A>G) results in substitution of an invariant arginine at amino acid 220 by lysine (p.Arg220Lys). This point mutation results in destabilization of the binding of pyridoxal-5'-phosphate to GABA-transaminase (required for transamination of GABA to succinic semialdehyde) and thus results in GABA-transaminase deficiency. 25485164
2013-12-28 11:40:00 Findings point to a possible role of ABAT gene-regulated GABA catabolism for an altered processing of somatosensory stimuli as a potential vulnerability marker for affective disorders. 22225676
2011-08-27 11:31:00 direct involvement of ABAT in pathways affecting lower esophageal sphincter (LES) control in gastro esophageal reflux disease 21552517

名称对应

Type IDs
Synonymous GABA-AT, GABAT, NPD009
Gene
UniProtKB-ID: GABT_HUMAN, X5D8S1_HUMAN
UniprotKB: P80404, X5D8S1
UniParc: UPI000006D4FC
EMBL: U80226, AK290501, L32961, BC015628, S75578, BC031413, KJ534758
Ensembl: ENSG00000183044
KO: hsa:18
Nucleutide sequences
EMBL-CDS: AAH15628.1, BAF83190.1, AAD14176.1, AAH31413.1, AAA74449.1, AAB38510.1, AHW56398.1
Ensembl_TRS: ENST00000396600, ENST00000425191, ENST00000268251
Protein sequencees
Ensembl_PRO: ENSP00000411916, ENSP00000268251, ENSP00000379845
RefSeq: NP_001373543.1, NP_001373538.1, NP_001373530.1, NP_001373533.1, NP_001373542.1, NP_001373541.1, NP_001373536.1, NP_001373537.1, NP_001373532.1, NP_001120920.1, NP_001373529.1, NP_001373534.1, NP_001373535.1, NP_001373531.1, NP_000654.2, NP_001373540.1, NP_001373539.1, NP_065737.2, NP_001373545.1, NP_001373544.1
Others
UniRef100: UniRef100_P80404
UniRef90: UniRef90_P80404
UniRef50: UniRef50_P80404
UniGene: Hs.336768
CCDS: CCDS10534.1

全选

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研究热度

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