DPP6 est un gène codé par le symbole DPP6. D'autres noms incluent: Dipeptidyl aminopeptidase-like protein 6; DPPX; Dipeptidyl aminopeptidase-related protein; Dipeptidyl peptidase 6; Dipeptidyl peptidase IV-like protein; Dipeptidyl peptidase VI; DPP VI. DPP6 a une masse de 97.59kDa, une longueur d'acide aminé de 865, et est impliqué dans les maladies: Familial paroxysmal ventricular fibrillation 2; Mental retardation, autosomal dominant 33.
Nous proposons 1 des anticorps contre DPP6, élevé dans Lapin, qui sont appropriés pour le WB avec des échantillons dérivés de Humain.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
Expressed predominantly in brain.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the peptidase S9B family.
Modification post-traductionnelle
N-glycosylated.
Localisation cellulaire
Cell membrane.
