Involvement in diseaseDefects in SGSH are the cause of mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]; also known as Sanfilippo syndrome A. MPS3A is a severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.
Sequence similaritiesBelongs to the sulfatase family.
Post-translational modificationsThe conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
Immunohistochemical analysis of formalin fixed paraffin embedded OVCAR3 xenograft, using ab96029 antibody at 1/100 dilution.
References for Anti-SGSH antibody (ab96029)
This product has been referenced in:
Duncan FJ et al. Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice. Mol Ther23:638-47 (2015).
Read more (PubMed: 25592334) »
Boado RJ et al. Insulin receptor antibody-sulfamidase fusion protein penetrates the primate blood-brain barrier and reduces glycosoaminoglycans in Sanfilippo type A cells. Mol Pharm11:2928-34 (2014).
Read more (PubMed: 24949884) »