TY - JOUR
T1 - 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
AU - Riazi, M. Ali
AU - Brinkman-Mills, Polly
AU - Johnson, Angela
AU - Naylor, Susan L.
AU - Minoshima, Shinsei
AU - Shimizu, Nobuyoshi
AU - Baldini, Antonio
AU - McDermid, Heather E.
PY - 1999/11/15
Y1 - 1999/11/15
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1999.5975
DO - 10.1006/geno.1999.5975
M3 - Article
C2 - 10585773
AN - SCOPUS:0032715596
VL - 62
SP - 90
EP - 94
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 1
ER -