SPIDR Chromosome 8
Scaffold protein involved in DNA repair
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What This Gene Does
Involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Located in nuclear chromosome and nucleoplasm. Implicated in ovarian dysgenesis 9. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Shu complex
Locus Type
gene with protein product
Location
8q11.21
Ensembl
ENSG00000164808
Associated Conditions (2)
Ovarian dysgenesis 9
Genetic non-acquired premature ovarian failure
Key Variants
RS139331110
Conflicting classifications of pathogenicity
Health Risk
RS1554668422
Pathogenic
Ovarian dysgenesis 9, Ovarian dysgenesis 9
Health Risk
RS754810654
Pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS781987881
Pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS782042817
Pathogenic
Ovarian dysgenesis 9, Ovarian dysgenesis 9
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139331110 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1554668422 | Health Risk | Pathogenic | Ovarian dysgenesis 9, Ovarian dysgenesis 9 |
| RS754810654 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS781987881 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS782042817 | Health Risk | Pathogenic | Ovarian dysgenesis 9, Ovarian dysgenesis 9 |