跨膜蛋白76/TMEM76抗体
规格：1mg/1ml
英文名： HGSNAT
别名： Heparan-alpha-glucosaminide N-acetyltransferase; HGNAT_HUMAN; HGSNAT; TMEM76; Transmembrane protein 76.
分子量： 73kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human HGSNAT
交叉反应：Human, Mouse, Dog, Rabbit,
细胞定位：
跨膜蛋白76/TMEM76抗体产品介绍：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跨膜蛋白76/TMEM76抗体 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 跨膜蛋白76/TMEM76抗体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. Gene ID: 138050 Database links: Entrez Gene: 138050 Human Omim: 138050 Human SwissProt: Q68CP4 Human Unigene: 600384 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
跨膜蛋白76/TMEM76抗体产品应用：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：**学 神经生物学 跨膜蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid