Specifications
Immunogen
A synthetic peptide of human GALNS is used for rabbit immunization.
Target
Alternative Names
GALNS; galactosamine (N-acetyl)-6-sulfate sulfatase; N-acetylgalactosamine-6-sulfatase; GALNAC6S; GAS; Morquio syndrome; mucopolysaccharidosis type IVA; chondroitinase; galNAc6S sulfatase; chondroitinsulfatase; galactose-6-sulfate sulfatase; N-acetylgalac
Product Background
Antigen Description
This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder.
Pathway
Chondroitin sulfate degradation, organism-specific biosystem; Chondroitin sulfate degradation, conserved biosystem; Glycosaminoglycan degradation, organism-specific biosystem; Glycosaminoglycan degradation, conserved biosystem; Keratan sulfate degradation, organism-specific biosystem; Keratan sulfate degradation, conserved biosystem; Lysosome, organism-specific biosystem;
Citations
Publication ()
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