Dipeptidyl Peptidase 6 (DPP6) ELISA Kit for Human

This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

DPP6: May be involved in the physiological processes of brain function. Has no dipeptidyl aminopeptidase activity. May modulate the cell surface expression and the activity of the potassium channel KCND2. Defects in DPP6 are the cause of familial paroxysmal ventricular fibrillation type 2 (VF2). A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. A genetic variation 340 bases upstream from the ATG start site of the DPP6 gene is the cause of familial paroxysmal ventricular fibrillation type 2. Belongs to the peptidase S9B family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Protease

Chromosomal Location of Human Ortholog: 7q36.2

Cellular Component: voltage-gated potassium channel complex; integral to membrane; plasma membrane

Molecular Function: potassium channel regulator activity; serine-type peptidase activity; dipeptidyl-peptidase activity

Biological Process: generation of action potential; proteolysis

Disease: Ventricular Fibrillation, Paroxysmal Familial, 2; Mental Retardation, Autosomal Dominant 33