Home
>
Product
>
Antibody
>
Rabbit Anti-mucolipin 1/FITC Conjugated antibody
background:
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]
Function:
Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis.
Subcellular Location:
Cell membrane. Late endosome membrane. Lysosome membrane.Entrez Gene: 57192 Human
Entrez Gene: 94178 Mouse
Entrez Gene: 288371 Rat
Omim: 605248 Human
SwissProt: Q9GZU1 Human
SwissProt: Q99J21 Mouse
Unigene: 567548 Human
Unigene: 631858 Human
Unigene: 8356 Mouse
Tissue Specificity:
Widely expressed in adult and fetal tissues.
DISEASE:
Defects in MCOLN1 are the cause of mucolipidosis type IV (MLIV) [MIM:252650]; 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. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews.
Similarity:
Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.
Database links:
Entrez Gene: 57192 Human
Entrez Gene: 94178 Mouse
Entrez Gene: 288371 Rat
Omim: 605248 Human
SwissProt: Q9GZU1 Human
SwissProt: Q99J21 Mouse
Unigene: 567548 Human
Unigene: 631858 Human
Unigene: 8356 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|