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

Genomics. 1999 Nov 15;62(1):90-4. doi: 10.1006/geno.1999.5975.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / metabolism
  • Chromosomes, Human, Pair 22 / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Exons / genetics
  • Expressed Sequence Tags
  • Female
  • Gene Duplication*
  • Genes*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Ion Transport / genetics
  • Large-Conductance Calcium-Activated Potassium Channel beta Subunits
  • Male
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Polymerase Chain Reaction
  • Potassium / metabolism
  • Potassium Channels / genetics*
  • Potassium Channels / physiology
  • Potassium Channels, Calcium-Activated*
  • Seizures / genetics
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Syndrome


  • KCNMB3 protein, human
  • Large-Conductance Calcium-Activated Potassium Channel beta Subunits
  • Nerve Tissue Proteins
  • Potassium Channels
  • Potassium Channels, Calcium-Activated
  • Potassium

Associated data

  • GENBANK/AF139471