|Western Blot (WB)||0.01-0.03 ug/ml|
|Tested Species reactivity||Human|
|Host / Isotype||Goat / IgG|
|Immunogen||Synthetic peptide sequence (TTHNLEDHTKLP) corresponding to the internal amino acids of GALNS|
|Purification||Antigen affinity chromatography|
|Storage buffer||TBS, pH 7.3, with 0.5% BSA|
|Contains||0.02% sodium azide|
|Storage conditions||-20° C, Avoid Freeze/Thaw Cycles|
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.
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; galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA); Galactose-6-sulfate sulfatase; GalN6S; GALNAC6S; GalNAc6S sulfatase; GALNS; MPS4A; 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
Molecular Function: hydrolase
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