The HGSNAT Polyclonal Antibody (PACO09719) is a valuable tool for researchers studying the HGSNAT gene, which encodes the enzyme responsible for the synthesis of heparan sulfate. This antibody, produced in rabbits, exhibits high specificity and sensitivity for human samples, and has been validated for use in Western blot applications.HGSNAT is a key enzyme involved in the degradation of heparan sulfate, a critical component of the extracellular matrix. Mutations in the HGSNAT gene have been linked to a rare lysosomal storage disorder known as mucopolysaccharidosis type IIIC (MPSIIIC). Research on HGSNAT and its role in heparan sulfate metabolism is essential for understanding the pathophysiology of MPSIIIC and developing potential therapeutic interventions.
The HGSNAT Polyclonal Antibody is an essential tool for investigating the expression and regulation of HGSNAT in various biological samples. Its high specificity and sensitivity make it an ideal choice for researchers in the fields of biochemistry, molecular biology, and lysosomal storage disorders. By utilizing this antibody, scientists can gain valuable insights into the function of HGSNAT and its implications in health and disease.
HGSNAT: 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. Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C); 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. 2 isoforms of the human protein are produced by alternative initiation.Protein type: Membrane protein, multi-pass; Membrane protein, integral; Acetyltransferase; EC 2.3.1.78; Glycan Metabolism - glycosaminoglycan degradationChromosomal Location of Human Ortholog: 8p11.1Cellular Component: lysosomal membrane; integral to membraneMolecular Function: heparan-alpha-glucosaminide N-acetyltransferase activity; transferase activity, transferring acyl groupsBiological Process: glycosaminoglycan catabolic process; lysosomal transport; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; protein oligomerizationDisease: Mucopolysaccharidosis, Type Iiic
UniProt Protein Details:
NCBI Summary:
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]
