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Immunogen sequence: TTHNLEDHTK LPLIFHLGRD PGERFPLSFA SAEYQEALSR ITSVVQQHQE ALVPAQPQLN VCNWAVMNWA PPGCEKLGKC LTPPESIPKK
This gene encodes N-acetylgalactosamine-6-sulfatase whichis a lysosomal exohydrolase required for the degradation of theglycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate.Sequence alterations including point, missense and nonsensemutations, as well as those that affect splicing, result in adeficiency of this enzyme. Deficiencies of this enzyme lead toMorquio A syndrome, a lysosomal storage disorder.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Chondroitinase; Chondroitinsulfatase; galactosamine (N-acetyl)-6-sulfate sulfatase; Galactose-6-sulfate sulfatase; GalN6S; GalNAc6S sulfatase; N-acetylgalactosamine-6-sulfatase; N-acetylgalactosamine-6-sulfate sulfatase
Gene Aliases: GalN6S; GALNAC6S; GALNS; GAS; MPS4A
UniProt ID: (Human) P34059
Entrez Gene ID: (Human) 2588
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