DPP6

DPP6 is 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.

Dipeptidyl Peptidase Like 6

Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437, PubMed:19441798).

Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:18364354).

Has no dipeptidyl aminopeptidase activity (PubMed:8103397, PubMed:15476821).

Protein localization to plasma membrane Source: UniProtKB
Regulation of potassium ion transmembrane transport Source: UniProtKB

Cell membrane

Familial paroxysmal ventricular fibrillation 2 (VF2):
The disease is caused by variants affecting the gene represented in this entry. 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. 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.
Mental retardation, autosomal dominant 33 (MRD33):
A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD33 patients manifest microcephaly and intellectual disability.

Cytoplasmic: 1-95
Helical: 96-116
Extracellular: 117-865

N-glycosylated.