DPP6
Function
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:15476821, PubMed:8103397).
Involvement in disease
Familial paroxysmal ventricular fibrillation 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.
None
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.
Intellectual developmental disorder, autosomal dominant 33
MRD33
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 in addition to intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Sequence Similarities
Belongs to the peptidase S9B family.
Tissue Specificity
Expressed predominantly in brain.
Cellular localization
- Cell membrane
- Single-pass type II membrane protein
Alternative names
A-type potassium channel modulatory protein DPP6, DPPX, Dipeptidyl aminopeptidase-like protein 6, Dipeptidyl aminopeptidase-related protein, Dipeptidyl peptidase 6, Dipeptidyl peptidase IV-like protein, Dipeptidyl peptidase VI, DPP VI, DPP6