DPP6 Chromosome 7
Dipeptidyl peptidase like 6
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What This Gene Does
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]
Gene Info
Gene Group
"Potassium voltage-gated channel regulatory subunits|DASH family"
Locus Type
gene with protein product
Location
7q36.2
Ensembl
ENSG00000130226
Associated Conditions (7)
Intellectual disability
autosomal dominant 33
DPP6-related disorder
See cases
Ventricular fibrillation
paroxysmal familial
2
Key Variants
RS117574002
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 33, Intellectual disability
Health Risk
RS140460765
Conflicting classifications of pathogenicity
DPP6-related disorder, DPP6-related disorder
Health Risk
RS2129062565
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS2533731
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 33, Ventricular fibrillation
Health Risk
RS572667303
Conflicting classifications of pathogenicity
Health Risk
RS926747893
Conflicting classifications of pathogenicity
Ventricular fibrillation, paroxysmal familial, 2
Health Risk
RS786205143
Pathogenic
Intellectual disability, autosomal dominant 33, Intellectual disability
Health Risk
RS606231226
Pathogenic; risk factor
Ventricular fibrillation, paroxysmal familial, 2
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117574002 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 33, Intellectual disability |
| RS140460765 | Health Risk | Conflicting classifications of pathogenicity | DPP6-related disorder, DPP6-related disorder |
| RS2129062565 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS2533731 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 33, Ventricular fibrillation |
| RS572667303 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS926747893 | Health Risk | Conflicting classifications of pathogenicity | Ventricular fibrillation, paroxysmal familial, 2 |
| RS786205143 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 33, Intellectual disability |
| RS606231226 | Health Risk | Pathogenic; risk factor | Ventricular fibrillation, paroxysmal familial, 2 |