For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 19; NC_000019.9 (7587496..7598895). Location: 19p13.2

Store all reagents at 2-8 degree C

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Small volumes of MCOLN1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9301181 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Mucolipin 1 (MCOLN1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing MCOLN1. The ELISA analytical biochemical technique of the MBS9301181 kit is based on MCOLN1 antibody-MCOLN1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect MCOLN1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, MCOLN1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

65,022 Da

mucolipin 1

mucolipin-1; mucolipidin; mucolipidosis type IV protein

Mucolipin-1

ML4??[Similar Products]

MCLN1_HUMAN

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]

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

Chromosomal Location of Human Ortholog: 19p13.2

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

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