REC8 Chromosome 14
REC8 meiotic recombination protein
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What This Gene Does
This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cohesin complex|Kleisins"
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000100918
Associated Conditions (13)
Non-obstructive azoospermia
Melanoma
Uterine corpus endometrial carcinoma
Thyroid cancer
nonmedullary
1
Malignant tumor of esophagus
Gastric cancer
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Thymoma
Premature ovarian insufficiency
Azoospermia
Key Variants
RS34075659
Conflicting classifications of pathogenicity
Non-obstructive azoospermia, Melanoma, Uterine corpus endometrial carcinoma
Health Risk
RS2138794849
Likely pathogenic
Premature ovarian insufficiency, Premature ovarian insufficiency
Health Risk
RS2139132972
Likely pathogenic
Premature ovarian insufficiency, Premature ovarian insufficiency
Health Risk
RS2138790657
Pathogenic
Azoospermia, Azoospermia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS34075659 | Health Risk | Conflicting classifications of pathogenicity | Non-obstructive azoospermia, Melanoma, Uterine corpus endometrial carcinoma |
| RS2138794849 | Health Risk | Likely pathogenic | Premature ovarian insufficiency, Premature ovarian insufficiency |
| RS2139132972 | Health Risk | Likely pathogenic | Premature ovarian insufficiency, Premature ovarian insufficiency |
| RS2138790657 | Health Risk | Pathogenic | Azoospermia, Azoospermia |