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. Note: This description may include information from UniProtKB.
Protein type: EC; Glycan Metabolism - other glycan degradation; Hydrolase; Lipid Metabolism - sphingolipid; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 6p21.33
Cellular Component:  cell junction; extracellular region; intracellular membrane-bounded organelle; lysosomal lumen; lysosomal membrane; lysosome; plasma membrane; specific granule lumen
Molecular Function:  alpha-sialidase activity; exo-alpha-(2->3)-sialidase activity; exo-alpha-(2->6)-sialidase activity; exo-alpha-(2->8)-sialidase activity; exo-alpha-sialidase activity; protein binding
Biological Process:  glycosphingolipid metabolic process; neutrophil degranulation; oligosaccharide catabolic process
Disease: Neuraminidase Deficiency
Reference #:  Q99519 (UniProtKB)
Alt. Names/Synonyms: Acetylneuraminyl hydrolase; exo-alpha-sialidase; FLJ93471; G9 sialidase; Lysosomal sialidase; N-acetyl-alpha-neuraminidase 1; NANH; NEU; NEU1; NEUR1; neuraminidase 1; SIAL1; sialidase 1 (lysosomal sialidase); Sialidase-1
Gene Symbols: NEU1
Molecular weight: 45,467 Da
Basal Isoelectric point: 5.59  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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