N-acetylglucosamine-6-sulfatase explained
| N-acetylglucosamine-6-sulfatase |
| Ec Number: | 3.1.6.14 |
| Cas Number: | 60320-99-2 |
| Go Code: | GO:0008449 |
N-acetylglucosamine-6-sulfatase (EC 3.1.6.14, glucosamine (N-acetyl)-6-sulfatase, systematic name N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase) is an enzyme that in humans is encoded by the GNS gene.[1] It is deficient in Sanfilippo Syndrome type IIId.[2] [3] [4] It catalyses the hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate
Function
N-acetylglucosamine-6-sulfatase is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate.[1]
Clinical significance
Deficiency of this enzyme results in the accumulation of undergraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.[1]
Nomenclature
The systematic name of this enzyme is "N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase". Other accepted names include:
- N-acetylglucosamine-6-sulfatase,
- glucosamine (N-acetyl)-6-sulfatase,
- 2-acetamido-2-deoxy-D-glucose 6-sulfate sulfatase,
- N-acetylglucosamine 6-sulfate sulfatase,
- O,N-disulfate O-sulfohydrolase,
- acetylglucosamine 6-sulfatase,
- chondroitinsulfatase, and
- glucosamine-6-sulfatase.
Notes and References
- Web site: Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase .
- Basner R, Kresse H, von Figura K . N-Acetylglucosamine-6-sulfate sulfatase from human urine . J. Biol. Chem. . 254 . 4 . 1151–8 . February 1979 . 10.1016/S0021-9258(17)34181-9 . 762121 . free .
- Kresse H, Fuchs W, Glössl J, Holtfrerich D, Gilberg W . N-acetylglucosamine-6-sulfate by human β-N-acetylhexosaminidase A . J. Biol. Chem. . 256 . 24 . 12926–32 . December 1981 . 10.1016/S0021-9258(18)42985-7 . 6458607 . free .
- Weissmann B, Chao H, Chow P . A glucosamine O,N-disulfate O-sulfohydrolase with a probable role in mammalian catabolism of heparan sulfate . Biochem. Biophys. Res. Commun. . 97 . 2 . 827–33 . November 1980 . 6451222 . 10.1016/0006-291x(80)90338-1.
