PSMC3IP Antibody

1. The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by Primary ovarian insufficiency (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. PMID: 29240891
2. PSMC3IP gene mutations are not common causes of primary ovarian insufficiency in this Swedish cohort. PMID: 24481226
3. GT198 mutant luteinized theca cells overexpressing CYP17 are common in ovarian cancer stroma. PMID: 24097974
4. a PSMC3IP/HOP2 mutation may cause XX ovarian dysgenesis through abolishing coactivation of estrogen-driven transcription PMID: 21963259
5. Data suggest that the human TBPIP/Hop2-Mnd1 complex may ensure proper pairing between homologous chromosomes through its stimulation of strand exchange during meiosis [Hop2]. PMID: 16407260
6. Data suggest that the human TBPIP/Hop2-Mnd1 complex may ensure proper pairing between homologous chromosomes through its stimulation of strand exchange during meiosis. PMID: 16407260
7. findings suggest that a component of 19S regulatory particles directly binds AR and might participate in AR-mediated transcriptional activation in cooperation with TBPIP. PMID: 19325002
8. Identification of GT198 (TBPIP/Hop2) as a nuclear receptor coactivator. GT198 is phosphorylation regulated. GT198 interacts with nuclear receptors. PMID: 11739747

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HGNC: 17928

OMIM: 608665

KEGG: hsa:29893

STRING: 9606.ENSP00000377384

UniGene: Hs.383019