GDF9 Chromosome 5
Growth differentiation factor 9
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What This Gene Does
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Transforming growth factor beta superfamily
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000164404
Associated Conditions (2)
Premature ovarian failure 14
Genetic non-acquired premature ovarian failure
Key Variants
RS61754582
Conflicting classifications of pathogenicity
Health Risk
RS1216260561
Likely pathogenic
Premature ovarian failure 14, Premature ovarian failure 14
Health Risk
RS2150042519
Likely pathogenic
Premature ovarian failure 14, Premature ovarian failure 14
Health Risk
RS2532351267
Likely pathogenic
Premature ovarian failure 14, Premature ovarian failure 14
Health Risk
RS751894227
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS373477788
Pathogenic
Premature ovarian failure 14, Premature ovarian failure 14
Health Risk
RS745755437
Pathogenic
Premature ovarian failure 14, Premature ovarian failure 14
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61754582 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1216260561 | Health Risk | Likely pathogenic | Premature ovarian failure 14, Premature ovarian failure 14 |
| RS2150042519 | Health Risk | Likely pathogenic | Premature ovarian failure 14, Premature ovarian failure 14 |
| RS2532351267 | Health Risk | Likely pathogenic | Premature ovarian failure 14, Premature ovarian failure 14 |
| RS751894227 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS373477788 | Health Risk | Pathogenic | Premature ovarian failure 14, Premature ovarian failure 14 |
| RS745755437 | Health Risk | Pathogenic | Premature ovarian failure 14, Premature ovarian failure 14 |