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货号： bs-16501R 基本售价： 1380.0 元 规格： 100ul
- 规格：100ul
- 价格：1380.00元
- 规格：200ul
- 价格：2200.00元
产品信息
- 产品编号
- bs-16501R
- 英文名称
- HGSNAT
- 中文名称
- 跨膜蛋白76/TMEM76抗体
- 别 名
- Heparan-alpha-glucosaminide N-acetyltransferase; HGNAT_HUMAN; HGSNAT; TMEM76; Transmembrane protein 76.
- 规格价格
- 100ul/1380元购买 200ul/2200元购买 大包装/询价
- 说 明 书
- 100ul 200ul
- 研究领域
- 免疫学 神经生物学 跨膜蛋白
- 抗体来源
- Rabbit
- 克隆类型
- Polyclonal
- 交叉反应
- Human, Mouse, Dog, Rabbit,
- 产品应用
- WB=1:500-2000 ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 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.
- 分 子 量
- 73kDa
- 细胞定位
- 细胞浆
- 性 状
- Lyophilized or Liquid
- 浓 度
- 1mg/ml
- 免 疫 原
- KLH conjugated synthetic peptide derived from human HGSNAT:301-400/663
- 亚 型
- IgG
- 纯化方法
- affinity purified by Protein A
- 储 存 液
- 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
- 保存条件
- Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
- PubMed
- PubMed
- 产品介绍
- background:
This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
Function:
Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.
Subcellular Location:
Lysosome membrane. Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain.
Tissue Specificity:
Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.
Post-translational modifications:
Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme.
DISEASE:
Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]; also known as Sanfilippo C syndrome. MPS3C 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.
SWISS:
Q68CP4
Gene ID:
138050
Database links:Entrez Gene: 138050Human
Omim: 138050Human
SwissProt: Q68CP4Human
Unigene: 600384Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.