Identity
HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
HSS,MPS3A,SFMD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6448
MIM: 605270
HGNC: 10818
Ensembl: ENSG00000181523
Variants:
dbSNP: 6448
ClinVar: 6448
TCGA: ENSG00000181523
COSMIC: SGSH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30006231 | 2018 | Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. | 9 |
| 30006231 | 2018 | Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. | 9 |
| 26331342 | 2016 | Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene. | 4 |
| 27590925 | 2016 | A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. | 16 |
| 26331342 | 2016 | Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene. | 4 |
| 27590925 | 2016 | A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. | 16 |
| 25592334 | 2015 | Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. | 12 |
| 25592334 | 2015 | Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. | 12 |
| 24816101 | 2014 | Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. | 14 |
| 24816101 | 2014 | Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. | 14 |
| 21550404 | 2011 | Enzyme replacement reduces neuropathology in MPS IIIA dogs. | 21 |
| 21671382 | 2011 | Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. | 7 |
| 21550404 | 2011 | Enzyme replacement reduces neuropathology in MPS IIIA dogs. | 21 |
| 21671382 | 2011 | Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. | 7 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
Citation
Dessen P
SGSH (N-sulfoglucosamine sulfohydrolase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73189/sgsh-(n-sulfoglucosamine-sulfohydrolase)
