Journal
HUMAN MOLECULAR GENETICS
Volume 9, Issue 17, Pages 2471-2478Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/9.17.2471
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Funding
- NINDS NIH HHS [R01-NS39995] Funding Source: Medline
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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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