C2D1A Polyclonal Antibody

disease:Defects in CC2D1A are the cause of mental retardation autosomal recessive type 3 (MRT3) [MIM:608443]. Patients display severe mental retardation and psychomotor development delay in early childhood. Non-syndromic mental retardation patients do not manifest other clinical signs.,domain:The C2 domain is required for the repression.,function:Transcription factor that binds specifically to the FRE (five repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell.,similarity:Belongs to the CC2D1 family.,similarity:Contains 1 C2 domain.,