Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Volume 1772, Issue 8, Pages 851-858Publisher
ELSEVIER
DOI: 10.1016/j.bbadis.2007.01.004
Keywords
lysosomal storage disorder; mucolipin protein family; endocytosis and lysosomal function; mucolipidosis
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Mucolipm I (MLNI), also known as TRPMLI, is a member of the mucolipin family. The mucolipins are the only lysosomal proteins within the TRP superfamily. Mutations in the gene coding for TRPML I result in a lysosomal storage disorder (LSD). This review summarizes the current knowledge related to this protein and the rest of the mucolipin family. (c) 2007 Elsevier B.V. All rights reserved.
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