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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Positive Control: SK-MEL-28 cell lysate, NCI-H226 cell lysate, TT cell lysate, Mouse brain tissue lysate, Rat brain tissue lysate, human brain tissue, mouse brain tissue, rat brain tissue.
Tissue Specificity: Low tissue specificity
Subcellular Location: Late endosome membrane, Lysosome membrane, Cytoplasmic vesicle membrane, Cell projection, phagocytic cup, Cytoplasmic vesicle, phagosome membrane, Cell membrane.
Sequence Similarities: 89.1% Mouse
Predicted band size: 65 kDa.
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; Mucolipin-1; Transient receptor potential channel mucolipin 1; Transient receptor potential-mucolipin 1; TRPML1
基因别名: 2210015I05Rik; MCOLN1; ML4; MSTP080; mucolipidin; TRPML1
UniProt ID: (Mouse) Q99J21
Entrez Gene ID: (Mouse) 94178, (Rat) 288371