Zurück zu Ihrem Suchergebnis

Beschreibung

Dipeptidyl aminopeptidase-like protein 6 (UniProt: P42658, also known as DPPX, Dipeptidyl aminopeptidase-related protein, Dipeptidyl peptidase 6, Dipeptidyl peptidase IV-like protein, Dipeptidyl peptidase VI, DPP VI) is encoded by the DPP6 gene (Gene ID: 1804) in human. DPP6 is a type II membrane glycoprotein of the dipeptydilaminopeptidase-like proteins (DPPLs) subfamily. DPP6 has a short cytoplasmic domain, a long extracellular domain and a transmembrane domain. DPP6 is an inactive protease homolog that is an important regulator of CG cell excitability. It is widely expressed in the brain where it co-assembles with KCND2 channels and KChIP auxiliary subunits to regulate the amplitude and functional properties of the somatodendritic A-current, ISA. DPP6 is reported to promote cell surface expression of KCND2 and modulates it s the activity and gating characteristics. Defects in DPP6 gene have been linked to familial paroxysmal ventricular fibrillation 2, which is characterized by cardiac arrhythmia marked by fibrillary ventricular muscle contractions. In addition, DPP6 mutations are reported to cause mental retardation, autosomal dominant 33 (MRD33) characterized by mental retardation associated with microcephaly and impairments in adaptive behavior.