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4438 MSH4

4438

MSH4

mutS homolog 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition mutS homolog 4

研究结论

Date Results Publications
2018-01-20 10:42:00 Study describes the first MSH4 mutation associated with POI and increases the number of meiotic/DNA repair genes formally implicated as being responsible for this condition. 28541421
2015-04-25 12:12:00 inactivation of MSH4 in germ cells may have played a role in the acquisition of additional TP53 and LATS1 germline mutations in a Li-Fraumeni family 25041856
2014-04-26 13:05:00 hMSH4 interacts with HDAC3. 24145748
2013-11-16 10:04:00 Our current study has revealed a role for hMSH4 in the maintenance of genomic stability by suppressing NHEJ-mediated DSB repair. 23725059
2011-05-07 11:10:00 mutation analysis of SYCP3, DNMT3L and MSH4 in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages 21126912

名称对应

Type IDs
Gene
UniProtKB-ID: MSH4_HUMAN
UniprotKB: O15457
UniParc: UPI000006D934
EMBL: CH471059, AY268350, AF104243, AL445464, BC033030, AL357314, U89293
Ensembl: ENSG00000057468
KO: hsa:4438
Nucleutide sequences
EMBL-CDS: EAX06392.1, AAH33030.1, AAP03427.1, AAB72039.1, AAD17920.1
Ensembl_TRS: ENST00000263187
Protein sequencees
Ensembl_PRO: ENSP00000263187
RefSeq: NP_002431.2
Others
UniRef100: UniRef100_O15457
UniRef90: UniRef90_O15457
UniRef50: UniRef50_Q99MT2
UniGene: Hs.216639
CCDS: CCDS670.1

全选

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研究热度

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