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57017 COQ9

57017

COQ9

coenzyme Q9

protein-coding

Homo sapiens

基因描述

Type Description
Definition coenzyme Q9

研究结论

Date Results Publications
2019-11-09 12:52:00 family with CoQ10 deficiency caused by mutations in the COQ9 gene 29560582
2015-04-18 10:54:00 Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. 25339443
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 There is a homozygous stop mutation affecting a highly conserved residue of COQ9, leading to the truncation of 75 amino acids. 19375058

名称对应

Type IDs
Synonymous C16orf49, COQ10D5
Gene
UniProtKB-ID: COQ9_HUMAN, A0A024R6U3_HUMAN
UniprotKB: O75208, A0A024R6U3
UniParc: UPI000003B0BE, UPI0000070ECA
EMBL: BC001478, AF161444, BC064946, AK290627, AK075438, CH471092, AL136884, BC054340, AC004382
Ensembl: ENSG00000088682
KO: hsa:57017
Nucleutide sequences
EMBL-CDS: BAF83316.1, AAC24313.1, EAW82928.1, CAB66818.2, AAF29004.1, AAH54340.2, AAH01478.2, AAH64946.1, BAC11621.1, EAW82931.1
Gene_ORFName: PSEC0129, HSPC326, hCG_2025883
Ensembl_TRS: ENST00000262507
Protein sequencees
Ensembl_PRO: ENSP00000262507
RefSeq: NP_064708.1
Others
UniRef100: UniRef100_O75208
UniRef90: UniRef90_O75208
UniRef50: UniRef50_O75208
UniGene: Hs.513632
CCDS: CCDS32459.1

全选

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