rs2533731
This variant is located in the DPP6 gene.
▶ClinVar annotation
not provided; Intellectual disability, autosomal dominant 33;Ventricular fibrillation, paroxysmal familial, 2; not specified
View on ClinVar →About DPP6
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]
View all DPP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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