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MED12 - mediator complex subunit 12
- Synonym(s) : ARC240, CAGH45, HOPA, KIAA0192, Kohtalo homolog, Kto, OKS, OPA1, TRAP230
- Previous symbols and names : FG syndrome 1, FGS1, TNRC11, mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)
- Type : gene with protein product
- Chromosomal location : Xq13.1
- OMIM: 300188
- HGNC: 11957
- UniProtKB: Q93074
- Genatlas: MED12
- GenCC: MED12
- Ensembl: ENSG00000184634
- IUPHAR-DB: -
- Reactome: Q93074
- LOVD: MED12
Diseases list
- Disease-causing germline mutation(s) in Blepharophimosis-intellectual disability syndrome, MKB type
ORPHA:293707 
- Disease-causing germline mutation(s) in Blepharophimosis-intellectual disability syndrome, Ohdo type
ORPHA:2728 - Disease-causing germline mutation(s) in FG syndrome type 1
ORPHA:93932 - Disease-causing germline mutation(s) in Lujan-Fryns syndrome
ORPHA:776 - Candidate gene tested in X-linked non-syndromic intellectual disability
ORPHA:777
: AssessedAdditional information
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