基因名：
PCP4
产品别名：
PEP-19； PCP4； Purkinje cell protein 4； Purkinje cell protein 4； calmodulin regulator protein PCP4； brain specific polypeptide PEP19； brain-specific antigen PCP-4； brain-specific polypeptide PEP-19；
背景信息：
PCP-4 is a calmodulin (CaM) regulatory protein that is highly expressed in neuronal cells. Through its IQ motif, PCP-4 mediates both the calcium-dependent binding properties of CaM and the rates of association and dissociation of calcium from the C-terminal domain of CaM. The IQ motif contains a serine residue which can be phosphorylated by all isoforms of protein kinase C (PKC). PCP-4 is implicated in uterine leiomyomas, as well as in neurodegenerative disorders such as Alzheimer’s disease and Huntington's disease. Additionally, overexpression of PCP-4 is thought to play a role in cerebellar hypoplasia, a key feature of Down syndrome.
