NEU2

Description

The NEU2 (neuraminidase 2) is a protein-coding gene located on chromosome 2.

NEU2 is a gene that encodes the enzyme sialidase-2. This enzyme belongs to a family of glycohydrolytic enzymes that remove sialic acid residues from glycoproteins and glycolipids. Studies in COS-7 cells have confirmed that NEU2 produces a functional sialidase. Its location within the cytosol has been established through cell fractionation experiments.

NEU2 is an exo-alpha-sialidase that catalyzes the removal of terminal sialic acid (N-acetylneuraminic acid, Neu5Ac) from glycan moieties during the breakdown of glycolipids, glycoproteins, and oligosaccharides. It exhibits selectivity for the sialyl linkage positions within the glycan and the overall structure of the sialoglycoconjugate. NEU2 demonstrates a preference for alpha-(2->3)-sialylated GD1a and GT1B gangliosides over alpha-(2->8)-sialylated GD1b, regardless of whether they are in monomeric or micellar forms. It hydrolyzes monomeric GM1 ganglioside but lacks activity against its miscellar form. NEU2 exhibits lower sialidase activity toward glycoproteins like fetuin and TF/transferrin, which contain a mixture of alpha-(2->3) and alpha-(2->6)-sialyl linkages. It cleaves the milk oligosaccharide alpha-(2->3)-sialyllactose but is inactive towards its alpha-(2->6)-sialyllactose isomer. NEU2 shows no activity towards colominic acid, a polymer of alpha-(2->8)-linked Neu5Ac residues.

NEU2 is also known as SIAL2.

Associated Diseases

• citrullinemia type II
• Alzheimer disease
• neonatal intrahepatic cholestasis due to citrin deficiency
• glycogen storage disease VI
• transient infantile hypertriglyceridemia and hepatosteatosis
• autosomal recessive limb-girdle muscular dystrophy type 2L
• inclusion body myopathy and brain white matter abnormalities
• familial chylomicronemia syndrome
• hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
• mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
• low phospholipid associated cholelithiasis
• LIPE-related familial partial lipodystrophy
• progressive familial intrahepatic cholestasis
• distal myopathy
• glycogen storage disease IXa1
• neutral lipid storage myopathy