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2558 GABRA5

2558

GABRA5

gamma-aminobutyric acid type A receptor alpha5 subunit

protein-coding

Homo sapiens

基因描述

Type Description
Definition gamma-aminobutyric acid type A receptor alpha5 subunit

研究结论

Date Results Publications
2021-02-06 13:50:00 Sex Differences in the Expression of the alpha5 Subunit of the GABAA Receptor in Alcoholics with and without Cirrhosis of the Liver. 31840824
2020-05-23 12:27:00 study identified GABRA5 as a causative gene for early onset epileptic encephalopathy and expands the mutant GABRA1 phenotypic spectrum, supporting growing evidence that defects in GABAergic neurotransmission contribute to early onset epileptic encephalopathy phenotypes. 31056671
2019-10-12 11:00:00 both total GABAA and GABAA alpha5 receptor availability in two positron emission tomography imaging studies, are reported. 30282698
2019-09-28 11:47:00 cryo-EM structure of the human alpha5beta3 GABAA receptor 30140029
2019-07-20 11:38:00 The GABRA5 p.V294L variant produced receptors that were 10-times more sensitive to GABA but had reduced maximal GABA-evoked current due to increased receptor desensitization. 29961870

名称对应

Type IDs
Gene
UniProtKB-ID: GBRA5_HUMAN
UniprotKB: P31644
UniParc: UPI000002D731
EMBL: L08485, AF228448, AF228447, BC111979, AF228449, AF061785, AK290453, BT009830, BC113422
Ensembl: ENSG00000186297
KO: hsa:2558
Nucleutide sequences
EMBL-CDS: AAF62510.1, AAF62509.1, AAF62508.1, AAC31809.1, AAA58490.1, AAI13423.1, AAP88832.1, BAF83142.1, AAI11980.1
Ensembl_TRS: ENST00000335625, ENST00000400081, ENST00000355395
Protein sequencees
Ensembl_PRO: ENSP00000347557, ENSP00000335592, ENSP00000382953
RefSeq: XP_006720522.1, XP_016877545.1, XP_016877544.1, XP_005268315.1, NP_001158509.1, NP_000801.1
Others
UniRef100: UniRef100_P31644
UniRef90: UniRef90_P31644
UniRef50: UniRef50_P31644
UniGene: Hs.24969
CCDS: CCDS45194.1

全选

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