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]
- Proteolysis
- Protein localization to plasma membrane
- Regulation of potassium ion transmembrane transport
- Mental retardation, autosomal dominant 33
- Ventricular fibrillation, paroxysmal familial, 2
- Microcephaly, autosomal dominant
- Idiopathic ventricular fibrillation, non brugada type
- Paroxysmal ventricular fibrillation
DPP6 Localizations – Subcellular Localization Database
Gene Location
