Species: Hu, Mu, Rt, Pm
Applications: WB, Simple Western
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
Host: Rabbit Polyclonal
Species: Hu, Rt
Applications: ICC/IF
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
Species: Mu
Applications: AC
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
Mucolipin-1 (MCOLN1) is a 65kDa member of the TRPML channel family, which is a subgroup of the large protein family of TRP ion channels. Mucolipin 1 is thought to channel iron ions across the endosome/lysosome membrane into the cell, so defective MCOLN1 may cause cellular iron deficiency.
Defects in MCOLN1 are known to cause mucolipidosis type IV (MLIV), also known as sialolipidosis. MLIV is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.
Bioinformatics
| Entrez |
Rat
Human
Mouse
|
| Uniprot |
Human
Human
Mouse
Human
|
| Product By Gene ID |
57192 |
| Alternate Names |
- MG-2
- ML4TRP-ML1
- MLIV
- MST080
- MSTP080
- mucolipidin
- Mucolipidin
- mucolipidosis type IV protein
- mucolipin 1
- mucolipin-1
- TRPML1
- TRP-ML1
- TRPM-L1
|
