MSH4 Chromosome 1
MutS homolog 4
Upload your DNA to see your personal genotypes for variants in MSH4.
What This Gene Does
This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
MutS homologs
Locus Type
gene with protein product
Location
1p31.1
Ensembl
ENSG00000057468
Associated Conditions (7)
Inborn genetic diseases
Genetic non-acquired premature ovarian failure
Non-obstructive azoospermia
Premature ovarian failure 20
Spermatogenic failure 2
Premature ovarian insufficiency
Oligospermia
Key Variants
RS116549128
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116141807
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS1430228393
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS149042353
Likely pathogenic
Non-obstructive azoospermia, Premature ovarian failure 20, Spermatogenic failure 2
Health Risk
RS1651856824
Likely pathogenic
Non-obstructive azoospermia, Non-obstructive azoospermia
Health Risk
RS557796016
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS751781089
Likely pathogenic
Non-obstructive azoospermia, Non-obstructive azoospermia
Health Risk
RS777079867
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS1386320504
Pathogenic
Genetic non-acquired premature ovarian failure, Spermatogenic failure 2, Genetic non-acquired premature ovarian failure
Health Risk
RS149910287
Pathogenic
Spermatogenic failure 2, Spermatogenic failure 2
Health Risk
RS2100513927
Pathogenic
Spermatogenic failure 2, Spermatogenic failure 2
Health Risk
RS2100570734
Pathogenic
Spermatogenic failure 2, Spermatogenic failure 2
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116549128 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS116141807 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS1430228393 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS149042353 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Premature ovarian failure 20, Spermatogenic failure 2 |
| RS1651856824 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Non-obstructive azoospermia |
| RS557796016 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS751781089 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Non-obstructive azoospermia |
| RS777079867 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS1386320504 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Spermatogenic failure 2, Genetic non-acquired premature ovarian failure |
| RS149910287 | Health Risk | Pathogenic | Spermatogenic failure 2, Spermatogenic failure 2 |
| RS2100513927 | Health Risk | Pathogenic | Spermatogenic failure 2, Spermatogenic failure 2 |
| RS2100570734 | Health Risk | Pathogenic | Spermatogenic failure 2, Spermatogenic failure 2 |
| RS2100581757 | Health Risk | Pathogenic | Spermatogenic failure 2, Spermatogenic failure 2 |
| RS771456188 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS774501542 | Health Risk | Pathogenic | Premature ovarian failure 20, Premature ovarian failure 20 |
| RS377712900 | Health Risk | Pathogenic/Likely pathogenic | Premature ovarian insufficiency, Oligospermia, Non-obstructive azoospermia |