MCOLN1 Chromosome 19
Mucolipin TRP cation channel 1
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What This Gene Does
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 Info
Gene Group
Transient receptor potential cation channels
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000090674
Associated Conditions (15)
Mucolipidosis type IV
MCOLN1-related disorder
Lisch epithelial corneal dystrophy
Inborn genetic diseases
Malignant tumor of urinary bladder
Retinal dystrophy
See cases
7 conditions
Abnormality of the nervous system
Mucolipidosis
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Key Variants
RS1182165362
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
RS1372906524
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
RS139377969
Conflicting classifications of pathogenicity
Mucolipidosis type IV, MCOLN1-related disorder, Lisch epithelial corneal dystrophy
Health Risk
RS139939038
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
RS140148914
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mucolipidosis type IV, Inborn genetic diseases
Health Risk
RS141168886
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
RS141240937
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
RS142259322
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
RS143068910
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
RS145191057
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
RS145386883
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Inborn genetic diseases, MCOLN1-related disorder
Health Risk
RS146187044
Conflicting classifications of pathogenicity
Mucolipidosis type IV, Mucolipidosis type IV
Health Risk
All Variants (163)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908372 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, MCOLN1-related disorder, Lisch epithelial corneal dystrophy |
| RS121908374 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Mucolipidosis type IV |
| RS1368027694 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |
| RS1555741822 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |
| RS1599254152 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Mucolipidosis type IV |
| RS2512470541 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Mucolipidosis type IV |
| RS2512472276 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |
| RS765577483 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |
| RS767122713 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |
| RS767950930 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |
| RS797044822 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |
| RS797044823 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |
| RS797044824 | Health Risk | Pathogenic/Likely pathogenic | Mucolipidosis type IV, Lisch epithelial corneal dystrophy, Mucolipidosis type IV |