PMID- 10585773
OWN - NLM
STAT- MEDLINE
DCOM- 20000204
LR  - 20131121
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 62
IP  - 1
DP  - 1999 Nov 15
TI  - 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.
PG  - 90-4
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.
CI  - Copyright 1999 Academic Press.
FAU - Riazi, M A
AU  - Riazi MA
AD  - Department of Biological Sciences, University of Alberta, Edmonton, Alberta, T6G 
      2E9, Canada.
FAU - Brinkman-Mills, P
AU  - Brinkman-Mills P
FAU - Johnson, A
AU  - Johnson A
FAU - Naylor, S L
AU  - Naylor SL
FAU - Minoshima, S
AU  - Minoshima S
FAU - Shimizu, N
AU  - Shimizu N
FAU - Baldini, A
AU  - Baldini A
FAU - McDermid, H E
AU  - McDermid HE
LA  - eng
SI  - GENBANK/AF139471
GR  - HD35272/HD/NICHD NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (KCNMB3 protein, human)
RN  - 0 (Large-Conductance Calcium-Activated Potassium Channel beta Subunits)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Potassium Channels)
RN  - 0 (Potassium Channels, Calcium-Activated)
RN  - RWP5GA015D (Potassium)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Chromosome Disorders/*genetics/metabolism
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Exons/genetics
MH  - Expressed Sequence Tags
MH  - Female
MH  - *Gene Duplication
MH  - *Genes
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Ion Transport/genetics
MH  - Large-Conductance Calcium-Activated Potassium Channel beta Subunits
MH  - Male
MH  - Molecular Sequence Data
MH  - Nerve Tissue Proteins/*genetics/physiology
MH  - Polymerase Chain Reaction
MH  - Potassium/metabolism
MH  - Potassium Channels/*genetics/physiology
MH  - *Potassium Channels, Calcium-Activated
MH  - Seizures/genetics
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
EDAT- 1999/12/10 09:00
MHDA- 2000/04/25 09:00
CRDT- 1999/12/10 09:00
PHST- 1999/12/10 09:00 [pubmed]
PHST- 2000/04/25 09:00 [medline]
PHST- 1999/12/10 09:00 [entrez]
AID - 10.1006/geno.1999.5975 [doi]
AID - S0888-7543(99)95975-X [pii]
PST - ppublish
SO  - Genomics. 1999 Nov 15;62(1):90-4. doi: 10.1006/geno.1999.5975.