SGSH
N-sulfoglucosamine sulfohydrolase
Gene Information Card
| Symbol | SGSH |
|---|---|
| Full Name | N-sulfoglucosamine sulfohydrolase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 6448 ncbi.nlm.nih.gov/gene/6448 |
| Ensembl ID | ENSG00000108423 |
| UniProt ID | P51688 |
| OMIM ID | 605270 |
| HGNC ID | 10818 |
| Aliases | HSS, MPS3A, SFMD, SGSH |
Description
The SGSH gene encodes N-sulfoglucosamine sulfohydrolase (heparan N-sulfatase), a lysosomal enzyme that catalyzes the first step in the degradation of heparan sulfate by removing sulfate groups from N-sulfated glucosamine residues. Deficiency of this enzyme leads to accumulation of heparan sulfate, causing mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A), a severe neurodegenerative lysosomal storage disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A) | Loss-of-function mutations in SGSH reduce or abolish heparan N-sulfatase activity, leading to lysosomal accumulation of heparan sulfate and progressive neurodegeneration. | ClinVar, OMIM #252900 |
| Mucopolysaccharidosis type III (unspecified) | Compound heterozygous or homozygous SGSH mutations cause MPS III with variable severity. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Lung | 5.9 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma |
| SH-SY5Y | 7.6 | Neuroblastoma |
| HEK293 | 6.4 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1080C>G (p.Tyr360*) | Nonsense | Common in European populations | Loss of function; premature stop codon |
| c.734G>A (p.Arg245Gln) | Missense | Frequent in Dutch patients | Reduced enzyme activity |
| c.1129C>T (p.Arg377Cys) | Missense | Reported in multiple populations | Partial loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SGSH mutations are loss-of-function, reducing or eliminating heparan N-sulfatase activity, leading to MPS IIIA.
Gain of Function (GOF)
No gain-of-function mutations reported for SGSH.
Dominant Negative (DN)
No dominant-negative mutations reported; MPS IIIA is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ['Glycosaminoglycan degradation (KEGG hsa00531)'
• 'Heparan sulfate degradation']
• ['Lysosome (KEGG hsa04142)'
• 'Lysosomal enzyme pathway']
Protein Summary
N-sulfoglucosamine sulfohydrolase (heparan N-sulfatase) is a 502-amino acid lysosomal enzyme that removes sulfate groups from N-sulfated glucosamine residues in heparan sulfate. It is synthesized as a precursor and processed to a mature form. Deficiency causes Sanfilippo syndrome type A.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGSH Knockout HEK293 Cell Line | EDJ-KQ5746 | Human | 6448 | Details Get a Quote |
| SGSH Knockout A-549 Cell Line | EDJ-KQ29148 | Human | 6448 | Details Get a Quote |
| SGSH Knockout HCT 116 Cell Line | EDJ-KQ29149 | Human | 6448 | Details Get a Quote |
| SGSH Knockout HeLa Cell Line | EDJ-KQ29150 | Human | 6448 | Details Get a Quote |
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