Rabbit MCOLN1 Polyclonal Antibody | anti-MCOLN1 antibody

MCOLN1, CT (MCOLN1, ML4, Mucolipin-1, MG-2, Mucolipidin)

Cat. Num. AAA6007836

• Gene Names: MCOLN1; ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Purified by Protein A and peptide affinity chromatography.
• Synonyms: MCOLN1; Polyclonal Antibody; CT (MCOLN1; ML4; Mucolipin-1; MG-2; Mucolipidin); Anti -MCOLN1; anti-MCOLN1 antibody

• Host: Rabbit
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human MCOLN1.
• Purity/Purification: Purified by Protein A and peptide affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

• Applicable Applications for anti-MCOLN1 antibody: ELISA (EL/EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Application Notes: Western Blot: 1:1000; Immunohistochemistry (FFPE): 1:10-1:50; Optimal dilutions to be determined by the researcher.
• Immunogen: KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 531-560 in the C-terminal region of human MCOLN1.; Species Sequence Homology: monkey, mouse
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Immunohistochemistry (IHC)

(Immunohistochemistry analysis in formalin fixed and paraffin embedded human kidney tissue using MBS6007836 followed by peroxidase conjugation of the secondary antibody and DAB staining. This data demonstrates the use of MBS6007836 for immunohistochemistry.)

Western Blot (WB)

(Western Blot analysis of Jurkat cell line lysates (35ug/lane) using MBS6007836. This demonstrates that MBS6007836 detected the MCOLN1 protein (arrow).)

Related Product Information for anti-MCOLN1 antibody

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.

Product Categories/Family for anti-MCOLN1 antibody

Antibodies; Abs to Proteins

NCBI and Uniprot Product Information

• NCBI GI #: 10092597
• NCBI GeneID: 57192
• NCBI Accession #: NP_065394.1
• NCBI GenBank Nucleotide #: NM_020533.2
• UniProt Accession #: Q9GZU1; Q7Z4F7; Q9H292; Q9H4B3; Q9H4B5; D6W647
• NCBI Official Full Name: mucolipin-1
• NCBI Official Synonym Full Names: mucolipin 1
• NCBI Official Symbol: MCOLN1
• NCBI Official Synonym Symbols: ML4; MG-2; MLIV; MST080; TRPML1; MSTP080; TRP-ML1; TRPM-L1
• NCBI Protein Information: mucolipin-1; mucolipidin; mucolipidosis type IV protein
• UniProt Protein Name: Mucolipin-1
• Protein Family: Mucolipin
• UniProt Gene Name: MCOLN1
• UniProt Synonym Gene Names: ML4
• UniProt Entry Name: MCLN1_HUMAN

NCBI Description

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]

Uniprot Description

mucolipin 1: 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. 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. Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.

Protein type: Channel, cation; Membrane protein, multi-pass; Membrane protein, integral; Transporter, ion channel

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: late endosome membrane; lysosomal membrane; integral to plasma membrane; cytoplasm; plasma membrane; integral to membrane; endosome membrane; receptor complex

Molecular Function: cation channel activity

Biological Process: cellular iron ion homeostasis; release of sequestered calcium ion into cytosol; transferrin transport; transmembrane transport; cation transport

Disease: Mucolipidosis Iv