MSH5 gene

mutS homolog 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 hetero-oligomers 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. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]

From UniProt:

Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis.

From NCBI Gene:

  • Premature ovarian failure 13

From UniProt:

Defects in MSH5 are associated with premature ovarian failure, a hypergonadotropic disorder characterized by cessation of menstruation before 40 years of age and elevated level of follicle stimulating hormone.

Cytogenetic Location: 6p21.33, which is the short (p) arm of chromosome 6 at position 21.33

Molecular Location: base pairs 31,739,948 to 31,762,678 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.33, which is the short (p) arm of chromosome 6 at position 21.33
  • G7
  • MUTSH5
  • NG23
  • POF13