NEU4

Chr 2

neuraminidase 4

NCBI Gene: 129807 ENSG00000204099 UniProt: Q8WWR8

The protein is an exo-alpha-sialidase that removes terminal sialic acid residues from gangliosides, glycoproteins, and oligosaccharides, playing a key role in glycan catabolism and regulation of cell surface glycan epitopes involved in cell adhesion. Biallelic mutations in NEU4 cause sialidosis, an autosomal recessive lysosomal storage disorder characterized by developmental delay, seizures, and progressive neurodegeneration. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern of the associated disorder.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.61

LOEUF

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Mechanism

Some data sources returned errors (1)