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MSH5

mutS homolog 5 (E. coli)

On chromosome: 6p21.3
Known also as: G7; NG23; MUTSH5; MGC2939; DKFZp434C1615;

NCBI Gene ID:	4439
NCBI Ensembl Id:	ENSG00000204410
MIM Id: (from NCBI OMIM database)	603382
Species:	Homo sapiens

This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms heterooligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. [provided by RefSeq]

Gene sequence:

[Download sequence]

Proteins coded by this gene:

MSH5 (Homo sapiens)

References:

Authors	Title	Journal
Winand NJ, Panzer JA, Kolodner RD	Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene.	Genomics Oct. 1, 1998
Edelmann W, Cohen PE, Kneitz B, Winand N, Lia M, Heyer J, Kolodner R, Pollard JW, Kucherlapati R	Mammalian MutS homologue 5 is required for chromosome pairing in meiosis.	Nat Genet Feb. 1, 1999
Aston KI, Krausz C, Laface I, Ruiz-Castane E, Carrell DT	Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.	Hum Reprod June 1, 2010
Pozo ND, Medrano LM, Cenit MC, Fernandez-Arquero M, Ferreira A, Garcia-Rodriguez MC, de la Concha EG, Urcelay E, Nunez C	MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.	Hum Immunol Sept. 1, 2010
Ucisik-Akkaya E, Davis CF, Do TN, Morrison BA, Stemmer SM, Amadio WJ, Tevfik Dorak M	Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.	Mol Hum Reprod Oct. 1, 2010

Last modification of this entry: Oct. 6, 2010.

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