MSH5
Description
The MSH5 (mutS homolog 5) is a protein-coding gene located on chromosome 6.
The MSH5 gene encodes a protein that is 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. It forms heterooligomers with another member of this family, mutS homolog 4. Alternative splicing results in four transcript variants encoding three different isoforms. Mutations in the MSH5 gene can lead to infertility in mice. In humans, mutations in MSH5 have been associated with premature ovarian failure.
MSH5 is also known as G7, MUTSH5, NG23, POF13, SPGF74.
Associated Diseases
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Premature ovarian failure 13
- Spermatogenic failure 74
