SGSH
Chr 17ARN-sulfoglucosamine sulfohydrolase
Also known as: HSS, MPS3A, SFMD
The protein encodes sulfamidase, a lysosomal enzyme that degrades heparan sulfate. Mutations cause mucopolysaccharidosis type IIIA (Sanfilippo syndrome A), an autosomal recessive lysosomal storage disorder characterized by impaired heparan sulfate degradation leading to progressive neurodegeneration. Loss of enzyme function results in toxic accumulation of heparan sulfate within lysosomes.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SGSH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
RECRUITINGNatural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
RECRUITINGGene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIA
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools