Gene: MCOLN1

Alternate names for this Gene: MG-2|ML1|ML4|MLIV|MST080|MSTP080|TRP-ML1|TRPM-L1|TRPML1

Gene Summary: This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: mucolipin TRP cation channel 1

Type of Gene: protein-coding

Gene: LOC105372261

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs121908373 in MCOLN1;LOC105372261 gene and Mucolipidosis Type IV PMID 11030752 2000 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.