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157378 TMEM65

157378

TMEM65

transmembrane protein 65

protein-coding

Homo sapiens

基因描述

Type Description
Definition transmembrane protein 65

研究结论

Date Results Publications
2017-09-16 11:51:00 A novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene identified in a patient with mitochondrial encephalomyopathy. TMEM65 mutation severely affected mitochondrial content and respiration rate in dermal fibroblasts. 28295037
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Gene
UniProtKB-ID: TMM65_HUMAN
UniprotKB: Q6PI78
UniParc: UPI00003675D1
EMBL: AC090192, BC017881, BC032396, BC041379
Ensembl: ENSG00000164983
KO: hsa:157378
Nucleutide sequences
EMBL-CDS: AAH17881.1, AAH32396.1, AAH41379.1
Ensembl_TRS: ENST00000297632
Protein sequencees
Ensembl_PRO: ENSP00000297632
RefSeq: NP_919267.2
Others
UniRef100: UniRef100_Q6PI78
UniRef90: UniRef90_Q6PI78
UniRef50: UniRef50_Q6PI78
UniGene: Hs.187646
CCDS: CCDS6348.1

全选

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