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91942 NDUFAF2

91942

NDUFAF2

NADH:ubiquinone oxidoreductase complex assembly factor 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition NADH:ubiquinone oxidoreductase complex assembly factor 2

研究结论

Date Results Publications
2020-10-31 13:19:00 NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. 32335026
2017-12-16 12:05:00 One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr]. 27344355
2015-10-31 10:19:00 Mimitin and 14-3-3 protein zeta/delta are potential markers of paclitaxel resistance and prognostic factors in ovarian cancer. 26033570
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-09-27 11:09:00 Within the clinical spectrum of Leigh disease, patients with mutations in NDUFAF2 present with a distinct clinical pattern with predominantly brainstem involvement on MRI 20571988

名称对应

Type IDs
Synonymous B17.2L, MC1DN10, MMTN, NDUFA12L, mimitin
Gene
UniProtKB-ID: NDUF2_HUMAN, A0A0S2Z5U1_HUMAN
UniprotKB: Q8N183, A0A0S2Z5U1
UniParc: UPI000006D648
EMBL: CH471123, AK291296, BC033965, KU178834, BC001753, AB183433
Ensembl: ENSG00000164182
KO: hsa:91942
Nucleutide sequences
EMBL-CDS: EAW55008.1, AAH33965.1, BAD91205.1, AAH01753.2, BAF83985.1, ALQ34292.1
Ensembl_TRS: ENST00000296597
Protein sequencees
Ensembl_PRO: ENSP00000296597
RefSeq: NP_777549.1
Others
UniRef100: UniRef100_Q8N183
UniRef90: UniRef90_Q8N183
UniRef50: UniRef50_Q8N183
UniGene: Hs.591757
CCDS: CCDS3979.1

全选

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