Synthetic peptide directed towards the C terminal region of human TMCO1
Application
Anti-TMCO1 antibody produced in rabbit is suitable for western blotting at a concentration of 1.0μg/ml.
Biochem/physiol Actions
Transmembrane and coiled-coil domains 1 (TMCO1) is a membrane protein of DUF841 superfamily. While the function of this protein is not clear, homozygous frameshift mutations in this gene causes craniofacial dysmorphism, skeletal anomalies, and mental retardation.
Sequence
Synthetic peptide located within the following region: CSFIFLYILCTMSIRQNIQKILGLAPSRAATKQAGGFLGPPPPSGKFS
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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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.
Proceedings of the National Academy of Sciences of the United States of America, 107(1), 258-263 (2009-12-19)
We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched bushy eyebrows
The dipeptide glycyl-l-phenylalanine 2-naphthylamide (GPN) is widely used to perturb lysosomes because its cleavage by the lysosomal enzyme cathepsin C is proposed to rupture lysosomal membranes. We show that GPN evokes a sustained increase in lysosomal pH (pHly), and transient
Transmembrane and coiled-coil domains 1 (TMCO1) is a recently identified Ca2+ leak channel in the endoplasmic reticulum. TMCO1 dysfunction in humans is associated with dysmorphism, mental retardation, glaucoma and the occurrence of cancer. Here we show an essential role of
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