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The target sequence has 85% sequence homology with monkey and 78% sequence homology with bovine.
Suggested positive control: mouse brain protein.
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; Transient receptor potential-mucolipin 1; TRPML1
基因别名: 2210015I05Rik; MCOLN1; MG-2; ML4; MLIV; MST080; MSTP080; mucolipidin; TRP-ML1; TRPM-L1; TRPML1
UniProt ID: (Human) Q9GZU1, (Mouse) Q99J21
Entrez Gene ID: (Human) 57192, (Mouse) 94178, (Rat) 288371