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

rs1057516904 in MCOLN1 gene and Dysmorphic features PMID 11461186 2001 Mucolipidosis type IV.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 11874766 2002 Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

PMID 9710036 1998 Mucolipidosis type IV: characteristic MRI findings.

PMID 24332805 2014 Quantitative neuroimaging in mucolipidosis type IV.

PMID 27357649 2016 MCOLN1 is a ROS sensor in lysosomes that regulates autophagy.

PMID 9448310 1998 Constitutive achlorhydria in mucolipidosis type IV.

PMID 25668017 2015 Lysosomal physiology.

PMID 9680151 1998 Electroencephalographic findings in patients with mucolipidosis type IV.

rs121908371 in MCOLN1 gene and Mucolipidosis Type IV PMID 21763169 2011 Mucolipidosis type IV: an update.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 10973263 2000 Identification of the gene causing mucolipidosis type IV.

PMID 14749347 2004 Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

PMID 15178326 2004 Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 18794901 2008 The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.

PMID 16978393 2006 Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic.

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

PMID 17239335 2007 Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

PMID 11030752 2000 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

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

PMID 11013137 2000 Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.

PMID 28112729 2017 Structural basis of dual Ca2+/pH regulation of the endolysosomal TRPML1 channel.

PMID 22268962 2012 Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1.

PMID 15523648 2004 Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

PMID 21256127 2011 The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.

PMID 14749347 2004 The V446L and DeltaF408 MLIV causing mutations retain channel function but not the sharp inhibition by lowering pH.

PMID 15178326 2004 F408del and F465L MLIV mutant proteins show a distribution similar to the wild-type protein, whereas T232P is retained in the endoplasmic reticulum.

rs1057516904 in MCOLN1 gene and Muscle hypotonia PMID 9448310 1998 Constitutive achlorhydria in mucolipidosis type IV.

PMID 9710036 1998 Mucolipidosis type IV: characteristic MRI findings.

PMID 9680151 1998 Electroencephalographic findings in patients with mucolipidosis type IV.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 11874766 2002 Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 27357649 2016 MCOLN1 is a ROS sensor in lysosomes that regulates autophagy.

PMID 25668017 2015 Lysosomal physiology.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 11461186 2001 Mucolipidosis type IV.

PMID 24332805 2014 Quantitative neuroimaging in mucolipidosis type IV.