KCNE2

KCNE2 mutations - KCNE2 synopsis

 

OMIM: *603796

Protein: AAD28086

Chromosome

Locus

Marker

21

21q22.1-q22.2

D21S65

21

21q22.1-q22.2

D21S219

 

Linkage: Genetic linkage of congenital long-QT syndrome of subtype 6 to the KCNE2 locus has not been shown yet.

The causative role of the KCNE2 gene in LQT6 is suggested by individual mutations in patients with LQT syndrome that each have been shown to result in a reduced I(Kr) current during in-vitro analysis.

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