Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2

M. Ali Riazi, Polly Brinkman-Mills, Angela Johnson, Susan L. Naylor, Shinsei Minoshima, Nobuyoshi Shimizu, Antonio Baldini, Heather E. McDermid

Research output: Contribution to journalArticlepeer-review

Abstract

Duplication of a segment of the long arm of human chromosome 3 (3q26.3- q27) results in a syndrome characterized by multiple congenital abnormalities and neurological anomalies in some patients. We have identified a novel gene (KCNMB3) that maps to this region. KCNMB3 has significant sequence similarity to the regulatory subunit of the large-conductance calcium-activated potassium channel. Due to the significance of potassium channels in neuronal functions, the overexpression of this gene may play a role in the abnormal neurological functions seen in some of these patients. A related sequence corresponding to the second and third exons of this gene resides in the pericentromeric region of 22q11, where a number of other unprocessed pseudogenes are known to map.

Original languageEnglish
Pages (from-to)90-94
Number of pages5
JournalGenomics
Volume62
Issue number1
DOIs
Publication statusPublished - Nov 15 1999

ASJC Scopus subject areas

  • Genetics

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