蛋白名称
Uncharacterized protein C10orf12
免疫原
Synthesized peptide derived from human CJ012 AA range: 556-606
特异性
This antibody detects endogenous levels of human CJ012
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
coiled-coil and C2 domain containing 1A(CC2D1A) Homo sapiens This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009],
功能
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.,
