MSH5

443917687ENSG00000237333ENSG00000227314ENSG00000233345ENSMUSG00000007035O43196Q5SSR2Q9QUM7NM_172166NM_002441NM_025259NM_172165NM_001146215NM_013600NP_002432NP_079535NP_751897NP_751898NP_751897.1NP_001139687NP_038628MutS protein homolog 5 is a protein that in humans is encoded by the MSH5 gene. MutS protein homolog 5 is a protein that in humans is encoded by the MSH5 gene. This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair or meiotic recombination processes. This protein is similar to a Saccharomyces cerevisiae protein that participates in meiotic segregation fidelity and crossing-over. This protein forms heterooligomers with another member of this family, mutS homolog 4. Alternative splicing results in four transcript variants encoding three different isoforms. Mice homozygous for a null Msh5 mutation (Msh5-/-) are viable but sterile. In these mice, the prophase I stage of meiosis is defective due to the disruption of chromosome pairing. This meiotic failure leads, in male mice, to diminution of testicular size, and in female mice, to a complete loss of ovarian structures. A genetic investigation was performed to test women with premature ovarian failure for mutations in each of four meiotic genes. Among 41 women with premature ovarian failure two were found to be heterozygous for a mutation in the MSH5 gene; among 34 fertile women (controls) no mutations were found in the four tested genes.