Human Mucolipin 1 (MCOLN1) ELISA Kit | MCOLN1 elisa kit
Human Mucolipin 1 (MCOLN1) ELISA Kit
NCBI and Uniprot Product Information
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: 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
Research Articles on MCOLN1
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Product Notes
The Human MCOLN1 mcoln1 (Catalog #AAA9301181) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9301181 ELISA Kit recognizes Human MCOLN1. It is sometimes possible for the material contained within the vial of "Mucolipin 1 (MCOLN1), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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