| NEU1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NEU1 , NANH, NEU, SIAL1, neuraminidase 1 (lysosomal sialidase), neuraminidase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608272 MGI: 97305 HomoloGene: 375 GeneCards: NEU1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Sialidase-1, is a mammalian lysosomal neuraminidase enzyme which in humans is encoded by the NEU1 gene. [5] [6]
The protein encoded by this gene encodes the lysosomal enzyme, which cleaves terminal sialic acid 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. [5]
Mutations in NEU1 leads to sialidosis, a rare lysosomal storage disease. [7] Sialidase has also been shown to enhance recovery from spinal cord contusion injury when injected in rats. [8]
NEU1 has been shown to interact with Cathepsin A. [9]
Sialic acids are a class of alpha-keto acid sugars with a nine-carbon backbone. The term "sialic acid" was first introduced by Swedish biochemist Gunnar Blix in 1952. The most common member of this group is N-acetylneuraminic acid found in animals and some prokaryotes.
Exo-α-sialidase is a glycoside hydrolase that cleaves the glycosidic linkages of neuraminic acids:
Mucolipidosis type I is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids. Both of these substances accumulate in bodily tissues.
α-Galactosidase is a glycoside hydrolase enzyme that catalyses the following reaction:
Arylsulfatase A is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase is an enzyme that in humans is encoded by the AGA gene.
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.
Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.
Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the GLB1 gene.
Cathepsin H is a protein that in humans is encoded by the CTSH gene.
Alpha-N-acetylgalactosaminidase is an enzyme that in humans is encoded by the NAGA gene.
Lysosomal acid phosphatase is an enzyme that in humans is encoded by the ACP2 gene.
Sialidase-3 is an enzyme that in humans is encoded by the NEU3 gene.
Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.
Sialidase-4 is an enzyme that in humans is encoded by the NEU4 gene.
Heparan-α-glucosaminide N-acetyltransferase is an enzyme that in humans is encoded by the HGSNAT gene.
Beta-mannosidase is an enzyme with systematic name beta-D-mannoside mannohydrolase, which is in humans encoded by the MANBA gene. This enzyme catalyses the following chemical reaction
Sialidase-2 is an enzyme that in humans is encoded by the NEU2 gene.
Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase. This deficiency inhibits the lysosomes of cells from functioning properly, resulting in the accumulation of toxic matter within the cell. Hallmark symptoms include abnormal spinal structure, vision problems, coarse facial features, hearing impairment, and intellectual disability. Because galactosialidosis involves the lysosomes of all cells, it can affect various areas of the body, including the brain, eyes, bones, and muscles. Depending on the patient's age at the onset of symptoms, the disease consists of three subtypes: early infantile, late infantile, and juvenile/adult. This condition is considered rare, with most cases having been in the juvenile/adult group of patients.
