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MED12

MIM.300188 Xq13

Friday 5 October 2007

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#