NEU1

Chr 6AR

neuraminidase 1

Also known as: NANH, NEU, SIAL1

NCBI Gene: 4758 ENSG00000204386 UniProt: Q99519 OMIM: 608272

The encoded protein is a lysosomal neuraminidase that cleaves terminal sialic acid residues from glycoproteins and glycolipids as part of a multienzyme complex with beta-galactosidase and cathepsin A. Mutations cause sialidosis, an autosomal recessive lysosomal storage disease with two forms: type I (late-onset cherry red spot-myoclonus syndrome) and type II (early-onset dysmorphic type with increased severity). The gene shows low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a lysosomal enzyme that 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 is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Sialidosis, type IMIM #256550

Sialidosis, type IIMIM #256550

Clinical highlights

Gene-disease validity (ClinGen)

sialidosis · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

LOF

Mechanism· G2P