MSH5 Chromosome 6
MutS homolog 5
Upload your DNA to see your personal genotypes for variants in MSH5.
What This Gene Does
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]
Gene Info
Gene Group
MutS homologs
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000204410
Associated Conditions (6)
Genetic non-acquired premature ovarian failure
MSH5-related disorder
Spermatogenic failure 74
Premature ovarian failure 13
Non-obstructive azoospermia
Azoospermia
Key Variants
RS28399976
Conflicting classifications of pathogenicity
Genetic non-acquired premature ovarian failure, MSH5-related disorder, Spermatogenic failure 74
Health Risk
RS144471639
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS375591471
Likely pathogenic
MSH5-related disorder, MSH5-related disorder
Health Risk
RS753519199
Likely pathogenic
Non-obstructive azoospermia, Spermatogenic failure 74, Non-obstructive azoospermia
Health Risk
RS1060505055
Pathogenic
Premature ovarian failure 13, Premature ovarian failure 13
Health Risk
RS1562249204
Pathogenic
Non-obstructive azoospermia, Spermatogenic failure 74, Non-obstructive azoospermia
Health Risk
RS1809169096
Pathogenic
Azoospermia, Azoospermia
Health Risk
RS961633772
Pathogenic
Non-obstructive azoospermia, Spermatogenic failure 74, Non-obstructive azoospermia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS28399976 | Health Risk | Conflicting classifications of pathogenicity | Genetic non-acquired premature ovarian failure, MSH5-related disorder, Spermatogenic failure 74 |
| RS144471639 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS375591471 | Health Risk | Likely pathogenic | MSH5-related disorder, MSH5-related disorder |
| RS753519199 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Spermatogenic failure 74, Non-obstructive azoospermia |
| RS1060505055 | Health Risk | Pathogenic | Premature ovarian failure 13, Premature ovarian failure 13 |
| RS1562249204 | Health Risk | Pathogenic | Non-obstructive azoospermia, Spermatogenic failure 74, Non-obstructive azoospermia |
| RS1809169096 | Health Risk | Pathogenic | Azoospermia, Azoospermia |
| RS961633772 | Health Risk | Pathogenic | Non-obstructive azoospermia, Spermatogenic failure 74, Non-obstructive azoospermia |