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4594 MMUT

4594

MMUT

methylmalonyl-CoA mutase

protein-coding

Homo sapiens

基因描述

Type Description
Definition methylmalonyl-CoA mutase

研究结论

Date Results Publications
2021-02-20 13:34:00 Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress. 32679819
2020-03-07 12:43:00 Our study identified a novel, deleterious, heterozygous missense mutation in MUT gene in a couple and helps to consider the genetic counselling and prenatal diagnosis more seriously for this family with clinical phenotypes of organic acidemia. 32013889
2019-12-21 11:23:00 These data demonstrate durable functional benefit of hMUT mRNA and support development of this new class of therapy for a devastating, pediatric disorder. 31303505
2019-12-14 10:13:00 Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation. 30913280
2019-10-12 11:02:00 The gene therapy method has been described for restoring the methylmalonyl-CoA mutase activity in vitro in fibroblasts from methylmalonic aciduria patients. 29265583

名称对应

Type IDs
Synonymous MCM, MUT
Gene
UniProtKB-ID: MUTA_HUMAN, B2R6K1_HUMAN, A0A024RD82_HUMAN
UniprotKB: P22033, B2R6K1, A0A024RD82
UniParc: UPI000175064D, UPI000013DA28
EMBL: M37501, MF170186, AK292568, M37507, BC016282, BT007434, KU178201, M37499, M37503, M37509, M37508, MF170179, AK312611, CH471081, M37504, AL590668, M65131, M37500, M37506, M37510, MF170187, M37505
Ensembl: ENSG00000146085
KO: hsa:4594
Nucleutide sequences
EMBL-CDS: AAA59569.1, AAP36102.1, AAH16282.1, BAF85257.1, AAA99226.1, BAG35498.1, AWH55638.1, ALQ33659.1, EAX04329.1, AWH55645.1, AWH55646.1, EAX04330.1
Gene_ORFName: hCG_21698
Ensembl_TRS: ENST00000274813
Protein sequencees
Ensembl_PRO: ENSP00000274813
RefSeq: XP_005249200.1, NP_000246.2
Others
UniRef100: UniRef100_B2R6K1, UniRef100_P22033
UniRef90: UniRef90_P22033
UniRef50: UniRef50_P22033
UniGene: Hs.485527
CCDS: CCDS4924.1

全选

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