| 词条 | N-acetylglucosamine-6-sulfatase |
| 释义 |
| Name = N-acetylglucosamine-6-sulfatase | EC_number = 3.1.6.14 | CAS_number = 60320-99-2 | GO_code = GO:0008449 | image = | width = | caption = }} N-acetylglucosamine-6-sulfatase also known as glucosamine (N-acetyl)-6-sulfatase is an enzyme that in humans is encoded by the GNS gene.[1] This enzyme is deficient in Sanfilippo Syndrome type IIId.[2][3][4] This enzyme catalyses the following chemical reaction: Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate FunctionN-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 significanceDeficiency 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] NomenclatureThe systematic name of this enzyme is "N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase". Other accepted names include:
References1. ^1 2 {{cite web | title = Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase | url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=2799 }} 2. ^{{cite journal |vauthors=Basner R, Kresse H, von Figura K | title = N-Acetylglucosamine-6-sulfate sulfatase from human urine | journal = J. Biol. Chem. | volume = 254 | issue = 4 | pages = 1151–8 |date=February 1979 | pmid = 762121 | doi = | url = }} 3. ^{{cite journal |vauthors=Kresse H, Fuchs W, Glössl J, Holtfrerich D, Gilberg W | title = N-acetylglucosamine-6-sulfate by human β-N-acetylhexosaminidase A | journal = J. Biol. Chem. | volume = 256 | issue = 24 | pages = 12926–32 |date=December 1981 | pmid = 6458607 | doi = | url = }} 4. ^{{cite journal |vauthors=Weissmann B, Chao H, Chow P | title = A glucosamine O,N-disulfate O-sulfohydrolase with a probable role in mammalian catabolism of heparan sulfate | journal = Biochem. Biophys. Res. Commun. | volume = 97 | issue = 2 | pages = 827–33 |date=November 1980 | pmid = 6451222 | doi = 10.1016/0006-291x(80)90338-1| url = }} External links
1 : EC 3.1.6 |
| 随便看 |
|
开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。