NEU2

Chr 2

neuraminidase 2

Also known as: SIAL2

NCBI Gene: 4759 ENSG00000115488 UniProt: Q9Y3R4 OMIM: 605528

NEU2 encodes a cytosolic sialidase enzyme that catalyzes the hydrolytic cleavage of terminal sialic acid residues from gangliosides, glycoproteins, and oligosaccharides, with preference for specific sialyl linkage positions. Mutations cause autosomal recessive sialidosis with neurodegeneration affecting the central nervous system. The gene shows minimal constraint against loss-of-function variants (pLI near zero, LOEUF 1.928), suggesting the associated phenotypes may be relatively mild or uncommon.

OMIM ResearchSummary from RefSeq, UniProt

This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.93

LOEUF

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Mechanism