NEU1 Antibody – Rabbit Polyclonal

NEU1: Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. Defects in NEU1 are the cause of sialidosis (SIALIDOSIS). It is a lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. Belongs to the glycosyl hydrolase 33 family.

Protein type: EC 3.2.1.18; Motility/polarity/chemotaxis; Glycan Metabolism - other glycan degradation; Hydrolase; Lipid Metabolism - sphingolipid

Chromosomal Location of Human Ortholog: 6p21.3

Cellular Component: lysosomal lumen; intracellular membrane-bound organelle; lysosome; lysosomal membrane; cytoplasmic membrane-bound vesicle; plasma membrane; cell junction

Molecular Function: exo-alpha-sialidase activity

Biological Process: oligosaccharide catabolic process; cellular protein metabolic process; sphingolipid metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid N-linked glycosylation via asparagine; glycosphingolipid metabolic process; post-translational protein modification; lipid catabolic process

Disease: Neuraminidase Deficiency