A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1

Biochem Biophys Res Commun. 2003 Sep 12;309(1):143-54. doi: 10.1016/s0006-291x(03)01555-9.


We identified a novel giant gene encoding a transmembrane protein with CUB and sushi multiple domains on the human chromosome 8q23.3-q24.1 in which benign adult familial myoclonic epilepsy type 1 (BAFME1/FAME, OMIM:601068) has been mapped. This giant gene consists of 73 exons and spans over 1.2Mb on the genomic DNA region. It showed significant homology to two genes, CSMD1 gene on 8p23 and CSMD2 gene on 1p34, at reduced amino acid sequence level and hence we designated as CSMD3. The CSMD3 gene was expressed mainly in adult and fetal brains. We performed mutation analysis on the CSMD3 gene for seven patients with BAFME1/FAME, but no mutation was found in the coding sequence of the CSMD3 gene. Comparative genomic analysis revealed a conserved family of CSMD genes in the mouse and fugu genomes. Possible functions of the CSMD gene family are discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Brain / metabolism
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8*
  • Contig Mapping
  • DNA Mutational Analysis
  • DNA, Complementary / metabolism
  • Epilepsies, Myoclonic / genetics*
  • Exons
  • Humans
  • Membrane Proteins / genetics*
  • Mice
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation
  • Open Reading Frames
  • Phylogeny
  • Protein Structure, Tertiary
  • RNA, Messenger / metabolism
  • Sequence Homology, Amino Acid
  • Takifugu
  • Tissue Distribution
  • Tumor Suppressor Proteins


  • CSMD1 protein, human
  • CSMD2 protein, human
  • CSMD3 protein, human
  • DNA, Complementary
  • Membrane Proteins
  • RNA, Messenger
  • Tumor Suppressor Proteins

Associated data

  • OMIM/601068