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

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

M Sun  1 , E Goldin, S Stahl, J L Falardeau, J C Kennedy, J S Acierno Jr, C Bove, C R Kaneski, J Nagle, M C Bromley, M Colman, R Schiffmann, S A Slaugenhaupt
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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

M Sun et al. Hum Mol Genet. .

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.

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