DPP6 ist ein Gen, das durch das Symbol DPP6 kodiert wird. Andere Namen sind: Dipeptidyl aminopeptidase-like protein 6; DPPX; Dipeptidyl aminopeptidase-related protein; Dipeptidyl peptidase 6; Dipeptidyl peptidase IV-like protein; Dipeptidyl peptidase VI; DPP VI. DPP6 hat eine Masse von 97.59kDa, eine Aminosäurelänge von 865, und ist an folgenden Krankheiten beteiligt: Familial paroxysmal ventricular fibrillation 2; Mental retardation, autosomal dominant 33.
Wir bieten 1 antikörper gegen DPP6, aufgewachsen in Kaninchen, welche geeignet sind für WB mit Proben abgeleitet von Human.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed predominantly in brain.
Rolle bei Krankheiten
Familial paroxysmal ventricular fibrillation 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: 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.
Sequenzähnlichkeiten
Belongs to the peptidase S9B family.
Posttranslationale Modifikation
N-glycosylated.
