NovelKCNJ5Mutations in Sporadic Aldosterone-Producing Adenoma Reduce Kir3.4 Membrane Abundance | Zendy

ChihJen Cheng | Zendy; Chih-Chien Sung | Zendy; Sheng-Tang Wu | Zendy; Yu-Chun Lin | Zendy; HueyKang Sytwu | Zendy; Chou-Long Huang | Zendy; ShihHua Lin | Zendy

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NovelKCNJ5Mutations in Sporadic Aldosterone-Producing Adenoma Reduce Kir3.4 Membrane Abundance

Author(s) -

ChihJen Cheng,

Chih-Chien Sung,

Sheng-Tang Wu,

Yu-Chun Lin,

HueyKang Sytwu,

Chou-Long Huang,

ShihHua Lin

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-3009

Subject(s) - mutation , mutant , aldosterone , biology , microbiology and biotechnology , wild type , medicine , endocrinology , gene , genetics

Aldosterone-producing adenoma (APA) has been linked to mutations in the KCNJ5 gene encoding the inward-rectifying potassium (K(+)) Kir3.4 channel. These mutations abolish the K(+) selectivity of Kir3.4 and, consequently, cause sodium (Na(+)) leak, depolarized membrane potential, and nonsuppressible aldosterone secretion.

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