Entity Details

Primary name MSH5
Entity type gene
Source Source Link

Details

PrimaryID4439
RefseqGeneNG_011611
SymbolMSH5
NamemutS homolog 5
Chromosome6
Location6p21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-11-09
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMSH5_HUMAN

GO terms

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GOName
GO:0000228 nuclear chromosome
GO:0000710 meiotic mismatch repair
GO:0005524 ATP binding
GO:0007131 reciprocal meiotic recombination
GO:0008094 ATPase, acting on DNA
GO:0030983 mismatched DNA binding

Diseases

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Disease IDSourceNameDescription
617442 OMIMPremature ovarian failure 13 (POF13)An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The disease is caused by variants affecting the gene represented in this entry.