MCOLN1 codes for a transmembrane protein that is found in vesicles. It is involved in endocytosis and lysosomal exocytosis. MCOLN1 mutations have been associated with the neurodegenerative lysosomal storage disorder, mucolipidosis type IV (MLIV). Rabbit Anti-MCOLN1 antibody recognizes bovine, canine, human, rat, and mouse MCOLN1.
Immunogen
Synthetic peptide directed towards the N terminal region of human MCOLN1
Application
Rabbit Anti-MCOLN1 antibody is suitable for western blot applications at a concentration of 0.5 μg/ml.
Biochem/physiol Actions
MCOLN1 encodes a protein that may be involved in calcium signaling and membrane trafficking in mucolipidosis IV.
Sequence
Synthetic peptide located within the following region: FRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYV
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
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Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder that occurs in an increased frequency in the Ashkenazi Jewish (AJ) population. The frequency of the disease in this population has been established by the testing of 66,749 AJ subjects
Neurofibrillary tangles (NFTs) composed of hyperphosphorylated and misfolded tau protein are a pathological hallmark of Alzheimer's disease and other tauopathy conditions. Tau is predominantly an intraneuronal protein but is also secreted in physiological and pathological conditions. The extracellular tau has
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