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79783 SUGCT

79783

SUGCT

succinyl-CoA:glutarate-CoA transferase

protein-coding

Homo sapiens

基因描述

Type Description
Definition succinyl-CoA:glutarate-CoA transferase

研究结论

Date Results Publications
2018-10-13 12:12:00 Chromosome microarray analysis showed a 125kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis. 29421601
2014-09-13 12:41:00 C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, which is the enzyme that converts glutarate to glutaryl-CoA 23893049
2012-06-07 14:50:00 Identified as a candidate disease gene for OXPHOS disorders by next-generation sequencing 22277967
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-09-15 22:06:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086

名称对应

Type IDs
Synonymous C7orf10, DERP13, GA3, ORF19
Gene
UniProtKB-ID: SUCHY_HUMAN, B4DJF0_HUMAN
UniprotKB: Q9HAC7, B4DJF0
UniParc: UPI0000551BCD, UPI000006EF06, UPI000013EF6B, UPI00005520A3, UPI00017A7203
EMBL: AC026866, CH236951, AC005160, AC004988, AF397013, BC098310, AC005030, BC098261, AC006023, AK299133, AB014767, CH471073, BC098318, AC092030, AK296048, AC079149, AK021870, AC025536, BC098117
Ensembl: ENSG00000175600
KO: hsa:79783
Nucleutide sequences
EMBL-CDS: AAH98310.1, BAG61185.1, AAH98117.1, BAB13922.1, BAB87807.1, EAW94136.1, AAL76418.1, AAH98261.1, AAH98318.1, EAL24000.1, BAG58812.1
Ensembl_TRS: ENST00000401647, ENST00000335693, ENST00000628514
Protein sequencees
Ensembl_PRO: ENSP00000385222, ENSP00000486291, ENSP00000338475
RefSeq: XP_011513828.1, XP_011513830.1, XP_011513827.1, NP_001180242.2, XP_016868110.1, XP_011513831.1, NP_001180241.2, NP_001180240.2, XP_006715838.1, NP_079004.2, XP_016868111.1, XP_011513829.1, XP_011513832.1
Others
UniRef100: UniRef100_Q9HAC7
UniRef90: UniRef90_Q9HAC7
UniRef50: UniRef50_Q9HAC7
UniGene: Hs.586313

全选

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