Medical Knowledge Cockpit ohdo syndrome

MED12

• Association studies of the HOPA dodecamer duplication variant in different subtypes of autism
• The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins
• Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis
• SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex

MED12

Somatic tumors

uterine leiomyoma, fibroadenoma, phyllodes tumour

Tumor types germline

Cancer Syndrom

Translocation partner

Name

mediator complex subunit 12

Chromosome banding

Xq13

Cancer molecular gen.

Dom

Mutation type

Mis, S, O

Other syndrome disease

Opitz-Kaveggia Syndrome