SGSH

N-sulfoglucosamine sulfohydrolase

2 disorders 1 causative 1 no genetic record 17q25.3 gene with protein product

HGNC:10818 Monarch NCBI Gene 6448 ENSG00000181523 UniProt P51688 OMIM 605270

Aliases: HSS, MPS3A, SFMD.

Normal function · from ai-gene-review (P51688, 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
Mucopolysaccharidosis	causative germline	mechanism: Lysosomal GAG Accumulation
Sanfilippo syndrome	no genetic record	mechanism: Lysosomal heparan sulfate catabolism defect subtype: MPS IIIA

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
mucopolysaccharidosis type 3A MONDO:0009655	AR	Definitive 2022-06-15	Sanfilippo syndrome no genetic record

Mechanism modules · computed from kb/

mps_gag_storage via Mucopolysaccharidosis

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