Full name: mutS homolog 5

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: Mut5

Summary: This gene encodes a member of the MutS family of proteins that play critical roles in DNA mismatch repair and meiotic homologous recombination processes. Mice lacking the encoded protein are viable but sterile, with severe defects in spermatogenesis in males and complete loss of ovarian structures in females. Mutations in a similar gene in humans have been shown to cause common variable immune deficiency (CVID) and immunoglobulin A deficiency. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Expression: Ubiquitous expression in testis adult (RPKM 3.5), liver E18 (RPKM 1.6) and 26 other tissues

Gene size: 20262bp

Exon count: 28