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Rabbit Anti-HGSNAT antibody
This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
Function:
Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.
Subcellular Location:
Lysosome membrane. Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last SLCterminus 16-amino acid domain.
Tissue Specificity:
Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.
Post-translational modifications:
Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme.
DISEASE:
Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]; also known as Sanfilippo C syndrome. MPS3C is a 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.
SWISS:
Q68CP4
Gene ID:
27650
Database links:
Entrez Gene: 27650 Human
Omim: 27650 Human
SwissProt: Q68CP4 Human
Unigene: 600384 Human
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