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4285 MIPEP

4285

MIPEP

mitochondrial intermediate peptidase

protein-coding

Homo sapiens

基因描述

Type Description
Definition mitochondrial intermediate peptidase

研究结论

Date Results Publications
2018-01-13 12:20:00 found that both BCL11A and HMIP-2 were associated with increased endogenous levels of HbF 27838552
2017-03-11 11:07:00 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Synonymous COXPD31, HMIP, MIP
Gene
UniProtKB-ID: MIPEP_HUMAN
UniprotKB: Q99797
UniParc: UPI000013C54A
EMBL: AL157368, BC009934, U80034, AL445985, AK291923, AL139080
Ensembl: ENSG00000027001
KO: hsa:4285
Nucleutide sequences
EMBL-CDS: AAC51231.1, BAF84612.1, AAH09934.1
Ensembl_TRS: ENST00000382172
Protein sequencees
Ensembl_PRO: ENSP00000371607
RefSeq: XP_011533399.1, XP_011533400.1, NP_005923.3
Others
UniRef100: UniRef100_Q99797
UniRef90: UniRef90_Q99797
UniRef50: UniRef50_Q99797
UniGene: Hs.507498
CCDS: CCDS9303.1

全选

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研究热度

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