Property Summary

NCBI Gene PubMed Count 31
PubMed Score 143.36
PubTator Score 81.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma -1.300 1.0e-05
atypical teratoid / rhabdoid tumor 1.300 1.9e-06
group 4 medulloblastoma 1.100 2.7e-05
pilocytic astrocytoma 1.200 2.2e-06
subependymal giant cell astrocytoma 1.490 1.4e-02
ovarian cancer 2.600 2.0e-08

Protein-protein Interaction (6)

Gene RIF (10)

PMID Text
25592334 results demonstrate that a single systemic scAAVrh74-hSGSH delivery mediated efficient restoration of SGSH activity and resulted in a near complete correction of MPS IIIA molecular pathology
24816101 The crystal structure of glycosylated sulfamidase provides insight into the diverse effects of pathogenic mutations on sulfamidase function in mucopolysaccharidosis type IIIA.
21671382 Processing and secretion of p.Ser298Pro sulfamidase suggests that small amounts of the newly synthesized enzyme are transported to lysosomes
21550404 Pre-symptomatic treatment of progressive neurodegenerative disease (mucopolysaccharidosis type IIIA) via intra-cerebrospinal fluid injection of recombinant human SGSH mediates highly significant reductions in neuropathology in a canine model.
20237496 Observational study of gene-disease association. (HuGE Navigator)
18407553 By assessing the degree of developmental regression over time a group of 7 pts with a slowly progressive course of MPSIIIA were identified. In these 7 pts and in 3 other mildly affected pts missense mutation c.892T>C (p.Ser298Pro) was found on 1 allele
15902564 analysis of a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P) in heparan N-sulphatase in a mucopolysaccharidosis IIIA patient [case report]
15146460 expression studies of four novel mutations
11793481 Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU
11668611 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

AA Sequence

MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAIATPHLDALARRSLLFRNAFTSVSSC      1 - 70
SPSRASLLTGLPQHQNGMYGLHQDVHHFNSFDKVRSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTE     71 - 140
ENGSVLQVGRNITRIKLLVRKFLQTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDW    141 - 210
TPQAYDPLDVLVPYFVPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPS    211 - 280
GRTNLYWPGTAEPLLVSSPEHPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKTIHLTGRSLLP    281 - 350
ALEAEPLWATVFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNFKMPFPIDQDFYVSPTFQDLLNRTTAGQP    351 - 420
TGWYKDLRHYYYRARWELYDRSRDPHETQNLATDPRFAQLLEMLRDQLAKWQWETHDPWVCAPDGVLEEK    421 - 490
LSPQCQPLHNEL                                                              491 - 502
//

Text Mined References (38)

PMID Year Title
25592334 2015 Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice.
24816101 2014 Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21671382 2011 Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
21550404 2011 Enzyme replacement reduces neuropathology in MPS IIIA dogs.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18407553 2008 The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
17128482 2006 Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.
16311287 2006 Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.
15902564 2005 Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
15637719 2005 An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146460 2004 Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12702166 2003 Analysis of Sanfilippo A gene mutations in a large pedigree.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12000360 2002 Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
11793481 2002 Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
11668611 2001 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
11343308 2001 Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
11182930 2000 Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
10727844 2000 Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
10521831 1999 Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele.
9744479 1998 Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
9700599 1998 Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.
9554748 1998 Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
9405287 1998 Recombinant human sulphamidase: expression, amplification, purification and characterization.
9401012 1997 Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
9285796 1997 Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
9158154 1997 Molecular defects in Sanfilippo syndrome type A.
8946167 1996 Structure and sequence of the human sulphamidase gene.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7493035 1995 Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.
6796310 1981 Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).