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Highest antigen sequence indentity to the following orthologs: Mouse (87%), Rat (87%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-111029. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
Defects in Mucolipin-1 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: MCLN1; MCOLN1 mucolipin 1; MG-2; MGC7172; ML1; Mucolipidin; mucolipidosis type IV protein; Mucolipin-1; Transient receptor potential channel mucolipin 1; TRPML1
基因别名: MCOLN1; MG-2; ML4; MLIV; MST080; MSTP080; TRP-ML1; TRPM-L1; TRPML1
UniProt ID: (Human) Q9GZU1
Entrez Gene ID: (Human) 57192