Polyclonal Mucolipin 1; Anti-Mucolipin 1; Mucolipin 1; Mucolipin -1; MCOLN1

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

Polyclonal

Rabbit

Mucolipin 1 antibody was raised against the N terminal of MCOLN1

Affinity purified

Lyophilized powder. Add 50ul distilled water for a 1mg/ml concentration of MCOLN1 antibody in PBS

1 mg/ml (lot specific)

Store at 2-8 degree C for short periods. For longer periods of storage, store at -20 degree C. Avoid repeat freeze-thaw cycles.

Small volumes of anti-MCOLN1 antibody 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.

Rabbit polyclonal Mucolipin 1 antibody raised against the N terminal of MCOLN1

Signal Transduction; Purified Polyclonal Antibodies

Western Blot (WB)

WB: 0.5 ug/ml

Mucolipin 1 antibody (MBS5302916) used at 0.5 ug/ml to detect target protein.

64 kDa (MW of target protein)[Similar Products]

mucolipin 1

mucolipin-1

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

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: late endosome membrane; integral to plasma 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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