View : 25 Download: 0

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families

Title
Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families
Authors
Choi B.-O.Kim J.Suh B.C.Yu J.S.Sunwoo I.N.Kim S.J.Kim G.H.Chung K.W.
Ewha Authors
최병옥
Issue Date
2007
Journal Title
Journal of Human Genetics
ISSN
1434-5161JCR Link
Citation
vol. 52, no. 3, pp. 280 - 283
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Mutations of the KCNJ2 gene are a major underlying cause of Andersen-Tawil syndrome (ATS), a rare autosomal dominant inherited disorder that is characterized by periodic paralysis, cardiac arrhythmias, and developmental dysmorphic features. The KCNJ2 gene encodes an inward rectifying K + channel protein, Kir2.1, which plays an important role in maintaining the homeostasis of channel current in various cell types. We have identified two missense mutations of KCNJ2 (R218Q and M307I) in two Korean families diagnosed with ATS. The M307I mutation is a novel mutation, located at the intracellular C-terminal domain, which is known to be concerned with putative phosphatidylinositol 4,5-bisphosphate (PIP 2) binding and channel trafficking. © 2007 The Japan Society of Human Genetics and Springer.
DOI
10.1007/s10038-006-0100-7
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE