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PSMC3IP
HGNC:17928 MIM.608665
Monday 14 November 2011
The PSMC3IP gene encodes a nuclear, tissue-specific protein with multiple functions, including a role in meiotic recombination and as a coactivator of ligand-dependent transcription mediated by nuclear hormone receptors.
Pathology
PSMC3IP mutation in PSMC3IP-associated XX ovarian dysgenesis or ovarian dysgenesis type 3 (17q21.2 MIM.614324) (21963259)
See also
PSMC3IP
References
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. Am J Hum Genet. 2011 Oct 7;89(4):572-9. PMID: 21963259
