产品名称
GNS Rabbit Polyclonal Antibody
蛋白名称
N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) (Glucosamine-6-sulfatase) (G6S)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
P15586
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P15586/entry
Mouse Swissprot No.
Q8BFR4
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q8BFR4
免疫原
Synthesized peptide derived from human protein . at AA range: 190-270
特异性
GNS Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
glucosamine (N-acetyl)-6-sulfatase(GNS) Homo sapiens The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded 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. [provided by RefSeq, Jul 2008],
组织表达
Endothelial cell,Human uterus endothel primary cell culture,Liver,Urinary b
信号通路
Glycosaminoglycan degradation;Lysosome;
功能
catalytic activity:Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.,cofactor:Binds 1 calcium ion per subunit.,disease:Defects in GNS are the cause of mucopolysaccharidosis type 3D (MPS3D) [MIM:252940]; also known as Sanfilippo D syndrome. MPS3D is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.,PTM:The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.,PTM:The form A (78 kDa) is processed by internal peptidase cleavage to a 32 kDa N-terminal species (form B) and a 48 kDa C-terminal species.,similarity:Belongs to the sulfatase family.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
