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Product Name mucolipin 3 Chinese Name 粘Lipoprotein3抗体 Alias MCOLN 3 ; MCOLN3 ; FLJ11006 ; FLJ36629 ; MCLN3_HUMAN ; MCOLN 3 ; MCOLN3 ; MGC71509 ; Mucolipin-3 ; TRP ML3 ; TRPML3. Research Area Tumour Cell biology Neurobiology Transmembrane protein The cell membrane蛋白 Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 64kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human mucolipin 3: 101-200/553 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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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