Article
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
Human molecular genetics - 12 Oct 2000
Sun M, Goldin E, Stahl S, Falardeau J L, Kennedy J C, Acierno J S, Bove C, Kaneski C R, Nagle J, Bromley M C, Colman M, Schiffmann R, Slaugenhaupt S A
Abstract excerpt
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...
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