CC2D1A Antibody – Rabbit Polyclonal

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]

CC2D1A: a transcription factor that binds specifically to the FRE (five repressor element) and represses 5- HT1A 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 5- HT1A associated with anxiety and major depression. Mediates HDAC-independent repression of 5- HT1A promoter in neuronal cells. Three alternatively spliced human isoforms have been described.

Protein type: Transcription factor

Chromosomal Location of Human Ortholog: 19p13.12

Cellular Component: cytoplasm; membrane; microtubule organizing center; nucleus

Molecular Function: protein binding; signal transducer activity

Biological Process: negative regulation of transcription from RNA polymerase II promoter; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transduction; transcription, DNA-dependent

Disease: Mental Retardation, Autosomal Recessive 3