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84334 APOPT1

84334

APOPT1

apoptogenic 1, mitochondrial

protein-coding

Homo sapiens

基因描述

Type Description
Definition apoptogenic 1, mitochondrial

研究结论

Date Results Publications
2014-11-08 10:52:00 Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. 25175347
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Synonymous APOP, APOP1, C14orf153
Gene
UniProtKB-ID: COA8_HUMAN
UniprotKB: Q96IL0
UniParc: UPI00117BDF37, UPI0000EE34A7
EMBL: AK223103, CB136383, AK223092, BC007412, AL139300
Ensembl: ENSG00000256053
KO: hsa:84334
Nucleutide sequences
EMBL-CDS: BAD96823.1, AAH07412.1, BAD96812.1
Ensembl_TRS: ENST00000674165
Protein sequencees
Ensembl_PRO: ENSP00000501341
RefSeq: NP_001357524.1, NP_001289583.2, NP_001289582.2, NP_001289581.2
Others
UniRef100: UniRef100_Q96IL0
UniRef90: UniRef90_Q96IL0
UniRef50: UniRef50_Q96IL0
UniGene: Hs.598441

全选

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