Immunoprecipitation of GALNS transfected lysate using anti-GALNS MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with GALNS MaxPab rabbit polyclonal antibody (D01) (H00002588-D01).
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. [provided by RefSeq