MED12
MIM.300188 Xq13
MED12 is a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.
Pathology
germline mutation in MED12 (also called TRAP230 or HOPA) (FGS1)
- Opitz-Kaveggia syndrome (also known as FG syndrome) (MIM.305450) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.
- Lujan-Fryns syndrome (MIM.309520)
variants in susceptibility to mental retardation
See also
thyroid hormone receptor-associated proteins (TRAPs)
References
Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. PMID: #17334363#