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. [provided by RefSeq, Oct 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MCOLN1-20-RE | 20 (40 μL) | 200 μL |  |
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| MCOLN1-20-OR | 20 (40 μL) | 200 μL |  |
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| MCOLN1-20-GO | 20 (40 μL) | 200 μL |  |
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| MCOLN1-20-GR | 20 (40 μL) | 200 μL |  |
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| MCOLN1-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Oct 2009]
Gene Symbol : MCOLN1
Gene Name : Mucolipin 1
Chromosome : CHR 19: 752,260,9-753,400,8
Locus : 19p13.2
Alt. Genes : ABI2
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