NEU1

neuraminidase 1

4 disorders 3 causative 1 untyped 6p21.33 gene with protein product

HGNC:7758 Monarch NCBI Gene 4758 ENSG00000204386 UniProt Q99519 OMIM 608272

Previous symbols: NEU.

Normal function · from ai-gene-review (Q99519, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Sialidosis Type 2	causative germline	mechanism: Severe Neuraminidase-1 Deficiency
Juvenile Sialidosis Type 2	causative germline	mechanism: Neuraminidase-1 Deficiency
Sialidosis type 1	causative	mechanism: NEU1 lysosomal neuraminidase deficiency
Progressive Myoclonus Epilepsy	untyped Causative	scoped to subtype: Sialidosis Type 1

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
sialidosis MONDO:0017734	AR	Definitive 2025-04-11	no dismech entry

Mechanism modules · computed from kb/

lysosomal_substrate_accumulation via Congenital Sialidosis Type 2, Juvenile Sialidosis Type 2

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.