PSMC3IP Chromosome 17
PSMC3 interacting protein
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What This Gene Does
This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Associated Conditions (1)
Ovarian dysgenesis 3
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1597722169 | Health Risk | Pathogenic | Ovarian dysgenesis 3, Ovarian dysgenesis 3 |
| RS2093045125 | Health Risk | Pathogenic | Ovarian dysgenesis 3, Ovarian dysgenesis 3 |