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Rabbit Anti-mucolipin 3 antibody
This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
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 Ca2+ transport regulating lysosomal exocytosis.
Subunit:
Forms multimeric complexes. Interacts with PDCD6.
Subcellular Location:
Membrane.
Tissue Specificity:
Widely expressed in adult and fetal tissues.
DISEASE:
Mucolipidosis type IV (MLIV) [MIM:252650]: 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.
SWISS:
Q8TDD5
Gene ID:
55283
Database links:
Entrez Gene: 55283 Human
Omim: 607400 Human
SwissProt: Q5T4H5 Human
SwissProt: Q8TDD5 Human
Unigene: 535239 Human
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