氨基葡萄糖6-硫酸酯酶抗体
规格：1尘驳/1尘濒
英文名： GNS
别名： 2610016K11Rik; AU042285; C87209; G6S; Glucosamine (N-acetyl) 6 sulfatase; Glucosamine 6 sulfatase; Glucosamine-6-sulfatase; GNS; GNS_HUMAN; MGC21274; N acetylglucosamine 6 sulfatase [Precursor]; N-ace
分子量： 58kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human GNS/Gluc
交叉反应：Human, Mouse, Rat, Cow, Horse, Rabbit,
细胞定位：细胞浆
氨基葡萄糖6-硫酸酯酶抗体产物介绍：background: GNS is a 552 amino acid lysosomal enzyme that hydrolyzes the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of keratan sulfate and heparan sulfate. A member of the sulfatase family, GNS assists in the catabolism of heparin, and binds calcium as a cofactor. GNS deficiency results in an autosomal recessive lysosomal storage disorder known as mucopolysaccharidosis type IIID (Sanfilippo D syndrome), which is characterized by mild somatic disease and severe degeneration of the central nervous system. Subject to post-translational internal peptidase cleavage, GNS is encoded by a gene mapping to human chromosome 12q14.2 and mouse chromosome 10 D2. Subcellular Location: Lysosome. Post-translational modifications: The form A (78 kDa) is processed by internal peptidase cleavage to a氨基葡萄糖6-硫酸酯酶抗体 32 kDa N-terminal species (form B) and a 48 kDa C-terminal species. 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. 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氨基葡萄糖6-硫酸酯酶抗体. 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. Similarity: Belongs to the sulfatase family. Gene ID: 2799 Database links: Entrez Gene: 2799 Human Omim: 607664 Human SwissProt: P15586 Human Unigene: 334534 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
氨基葡萄糖6-硫酸酯酶抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 发育生物学 神经生物学 新陈代谢
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid