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55526 DHTKD1

55526

DHTKD1

dehydrogenase E1 and transketolase domain containing 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition dehydrogenase E1 and transketolase domain containing 1

研究结论

Date Results Publications
2021-01-02 12:50:00 Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism. 32303640
2020-11-21 13:25:00 Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues. 32024885
2015-04-21 17:04:00 DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex 25860818
2014-02-01 11:07:00 DHTKD1 contributes to mitochondrial biogenesis and function maintenance. 24076469
2013-02-16 10:26:00 A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. 23141294

名称对应

Type IDs
Synonymous AMOXAD, CMT2Q
Gene
UniProtKB-ID: DHTK1_HUMAN
UniprotKB: Q96HY7
UniParc: UPI000013D38C
EMBL: AB046850, BC007955, BC002477, CR749726, AC073160
Ensembl: ENSG00000181192
KO: hsa:55526
Nucleutide sequences
EMBL-CDS: CAH18489.1, AAH07955.1, BAB13456.1, AAH02477.1
Ensembl_TRS: ENST00000263035
Protein sequencees
Ensembl_PRO: ENSP00000263035
RefSeq: NP_061176.4
Others
UniRef100: UniRef100_Q96HY7
UniRef90: UniRef90_Q96HY7
UniRef50: UniRef50_Q96HY7
UniGene: Hs.104980, Hs.568075
CCDS: CCDS7087.1

全选

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研究热度

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