NEU1
Encyclopedia
Sialidase 1, also known as NEU1 is a mammalian lysosomal neuraminidase
enzyme which in humans is encoded by the NEU1 gene
.
residues from substrates such as glycoproteins and glycolipids. In the lysosome
, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis
.
, a rare lysosomal storage disease
. Sialidase has also been shown to enhance recovery from spinal cord contusion injury when injected in rats.
with Cathepsin A
.
Neuraminidase
Neuraminidase enzymes are glycoside hydrolase enzymes that cleave the glycosidic linkages of neuraminic acids. Neuraminidase enzymes are a large family, found in a range of organisms. The most commonly known neuraminidase is the viral neuraminidase, a drug target for the prevention of the spread...
enzyme which in humans is encoded by the NEU1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
The protein encoded by this gene encodes the lysosomal enzyme, which cleaves terminal sialic acidSialic acid
Sialic acid is a generic term for the N- or O-substituted derivatives of neuraminic acid, a monosaccharide with a nine-carbon backbone. It is also the name for the most common member of this group, N-acetylneuraminic acid...
residues from substrates such as glycoproteins and glycolipids. In the lysosome
Lysosome
thumb|350px|Schematic of typical animal cell, showing subcellular components. [[Organelle]]s: [[nucleoli]] [[cell nucleus|nucleus]] [[ribosomes]] [[vesicle |vesicle]] rough [[endoplasmic reticulum]]...
, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis
Sialidosis
Mucolipidosis type I or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme sialidase. The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids...
.
Clinical significance
Deficiencies in the human enzyme NEU1 leads to sialidosisSialidosis
Mucolipidosis type I or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme sialidase. The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids...
, a rare lysosomal storage disease
Lysosomal storage disease
Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function...
. Sialidase has also been shown to enhance recovery from spinal cord contusion injury when injected in rats.
Interactions
NEU1 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with Cathepsin A
Cathepsin A
Cathepsin A is an enzyme which is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.- Function :...
.