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Details for Product No. ABIN350482

Mucolipin 1 (MCOLN1) (C-Term) antibody

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Synonyms MG-2, ML4, MLIV, MST080, TRP-ML1, TRPM-L1, TRPML1, 2210015I05Rik, mucolipidin, mcoln1, mcoln1.1, zgc:63619, mln1, mucolipin-1, MCOLN1
»Alternatives C-Term
»Alternatives Human
»Alternatives Rabbit
Clonality Polyclonal
»Alternatives Un-conjugated
»Alternatives Immunohistochemistry (IHC), Western Blotting (WB)
Pubmed 10 references available
Catalog no. ABIN350482
Quantity 100 µL
454.67 $   Plus shipping costs $45.00
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Immunogen A synthetic peptide from the c-terminal part of isoforms 1, 2 of human Mucolipin 1 (Mcoln1, MCLN1) conjugated to an immunogenic carrier protein was used as the immunogen.
Specificity Appears to be specific for Mucolipin 1, isoforms 1 and 2.
Purification Rabbit Anti-cdc25A (Ab-76) Polyclonal Antibody is affinity-purified from rabbit antiserum by affinity chromatography using epitope-specific immunogen.
Purity whole serum
Alternative Name Mucolipin 1 (TRPML1)
Background Function: Cationic 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.
Subunit: Forms multimeric complexes.
Subcellular location: Cell membrane, Multi-pass membrane protein. Late endosome membrane, Multi-pass membrane protein. Lysosome membrane, Multi-pass membrane protein.
Tissue specificity: Widely expressed in adult and fetal tissues. DISEASE: Defects in MCOLN1 are the cause of 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. 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.
Miscellaneous: Channel function is transiently modulated by changes in Ca(2+), and inhibited by a reduction of pH, pH changes modify the aggregation state of unitary channels Also known as:Mucolipin-1, Mucolipidin, Mcoln1,Mucolipin 1, Mcoln1, MCLN1, TRPML1, MGC7172, mucolipidin, 2210015I05Rik,Mucolipin-1, MG-2, ML4, MSTP080, MLIV, TRP-ML1, TRPM-L1, MCOLN1Mucolipin 1.
UniProt Q9GZU1
Application Notes IHC, WB. A dilution of 1: 300 to 1: 2000 is recommended. The optimal dilution should be determined by the end user. Not yet tested in other applications.
Restrictions For Research Use only
Format Lyophilized
Storage -20 °C
Bargal, Avidan, Ben-Asher et al.: "Identification of the gene causing mucolipidosis type IV." in: Nature genetics, Vol. 26, Issue 1, pp. 118-23, 2000 (PubMed).

Bassi, Manzoni, Monti et al.: "Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV." in: American journal of human genetics, Vol. 67, Issue 5, pp. 1110-20, 2000 (PubMed).

Sun, Goldin, Stahl et al.: "Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel." in: Human molecular genetics, Vol. 9, Issue 17, pp. 2471-8, 2000 (PubMed).

Falardeau, Kennedy, Acierno et al.: "Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans." in: BMC genomics, Vol. 3, Issue 1, pp. 3, 2003 (PubMed).

LaPlante, Falardeau, Sun et al.: "Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway." in: FEBS letters, Vol. 532, Issue 1-2, pp. 183-7, 2002 (PubMed).

Ota, Suzuki, Nishikawa et al.: "Complete sequencing and characterization of 21,243 full-length human cDNAs." in: Nature genetics, Vol. 36, Issue 1, pp. 40-5, 2003 (PubMed).

Ballif, Villén, Beausoleil et al.: "Phosphoproteomic analysis of the developing mouse brain." in: Molecular & cellular proteomics : MCP, Vol. 3, Issue 11, pp. 1093-101, 2004 (PubMed).

Carninci, Kasukawa, Katayama et al.: "The transcriptional landscape of the mammalian genome." in: Science (New York, N.Y.), Vol. 309, Issue 5740, pp. 1559-63, 2005 (PubMed).

Munton, Tweedie-Cullen, Livingstone-Zatchej et al.: "Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations." in: Molecular & cellular proteomics : MCP, Vol. 6, Issue 2, pp. 283-93, 2007 (PubMed).

Lee, Xu, Chen et al.: "Mitochondrial phosphoproteome revealed by an improved IMAC method and MS/MS/MS." in: Molecular & cellular proteomics : MCP, Vol. 6, Issue 4, pp. 669-76, 2007 (PubMed).

Alternatives for antigen "Mucolipin 1 (MCOLN1)", type "Antibodies"
Hosts (19), (1), (1), (1)
Reactivities (20), (10), (10), (1), (1)
Applications (22), (4), (3), (1), (1), (1)
Conjugates (2), (2), (2), (1), (1)
Epitopes (11), (7), (2), (2), (1), (1)