Invitrogen™ TRPML1 Recombinant Rabbit Monoclonal Antibody (PSH09-01)

Description

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 specificitySubcellular Location: Late endosome membrane, Lysosome membrane, Cytoplasmic vesicle membrane, Cell projection, phagocytic cup, Cytoplasmic vesicle, phagosome membrane, Cell membrane.Sequence Similarities: 89.1% MousePredicted 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.