TRAP220 Polyclonal Antibody, 50ul[BT-AP09180] Immunoassays Mutations in this gene cause

Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4

May participate in kidney development and may be involved in podocyte differentiation

and a dysmorphic facial appearance

Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3

TRAP220 Polyclonal Antibody, 50ul[BT-AP09180] Immunoassays Mutations in this gene causeThe activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by MED1 (mediator complex subunit 1) is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1.