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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1997-10-23
pubmed:databankReference
pubmed:abstractText
The beta2 subunit of rat brain voltage-gated sodium channels modulates their cell-surface expression and gating. It is a 33 kDa glycoprotein with a single transmembrane segment and an immunoglobulin-like fold resembling those of cell adhesion molecules in the extracellular domain. Here we report the cDNA sequence and genomic localization of the gene encoding the human beta2 subunit. The mature human beta2 protein has 89% amino acid sequence identity to rat beta2 and has four conserved consensus sites for N-linked glycosylation. The extracellular cysteine residues which are predicted to form the disulfide linkage in the immunoglobulin-like fold are also conserved, indicating that the overall structure is preserved between these two species. Using fluorescent in situ hybridization (FISH), we localized the beta2 gene to human chromosome 11q3. Mutations in this region of chromosome 11 in Charcot-Marie-Tooth syndrome type 4B and in other neurological diseases cause abnormal myelination and neurological deficits. The similarity of beta2 to cell adhesion molecules, including myelin protein p0, and its chromosomal location at 11q23 suggest a potential role in these demyelinating diseases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0959-4965
pubmed:author
pubmed:issnType
Print
pubmed:day
18
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2775-9
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:9295116-Amino Acid Sequence, pubmed-meshheading:9295116-Animals, pubmed-meshheading:9295116-Brain Chemistry, pubmed-meshheading:9295116-Cell Adhesion Molecules, Neuronal, pubmed-meshheading:9295116-Chromosomes, Human, Pair 11, pubmed-meshheading:9295116-Contactins, pubmed-meshheading:9295116-DNA, Complementary, pubmed-meshheading:9295116-Genetic Code, pubmed-meshheading:9295116-Humans, pubmed-meshheading:9295116-Membrane Glycoproteins, pubmed-meshheading:9295116-Membrane Potentials, pubmed-meshheading:9295116-Molecular Sequence Data, pubmed-meshheading:9295116-Myelin Proteins, pubmed-meshheading:9295116-Nerve Tissue Proteins, pubmed-meshheading:9295116-Peptide Fragments, pubmed-meshheading:9295116-Protein Folding, pubmed-meshheading:9295116-Rats, pubmed-meshheading:9295116-Sequence Homology, Amino Acid, pubmed-meshheading:9295116-Sodium Channels
pubmed:year
1997
pubmed:articleTitle
Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel.
pubmed:affiliation
Graduate Program in Neurobiology and Behavior, University of Washington, Seattle 98195, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't