Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

Hum Mol Genet. 2000 Oct 12;9(17):2471-8. doi: 10.1093/hmg/9.17.2471.

Abstract

Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities. The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2-13.3 by genetic linkage. Here we report the cloning of a novel transient receptor potential cation channel gene and show that this gene is mutated in patients with the disorder. ML4 encodes a protein, which we propose to call mucolipin, which has six predicted transmembrane domains and is a member of the polycystin II subfamily of the Drosophila transient receptor potential gene family. The role of a potential receptor-stimulated cation channel defect in the pathogenesis of mucolipidosis IV is discussed.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Chromosomes, Human, Pair 19
  • Expressed Sequence Tags
  • Female
  • Haplotypes
  • Humans
  • Male
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Molecular Sequence Data
  • Mucolipidoses / genetics*
  • Mutation
  • Physical Chromosome Mapping
  • Sequence Alignment
  • TRPM Cation Channels
  • Transient Receptor Potential Channels

Substances

  • MCOLN1 protein, human
  • Membrane Proteins
  • TRPM Cation Channels
  • Transient Receptor Potential Channels

Associated data

  • GENBANK/AF287269
  • GENBANK/AF287270