α-半乳糖苷酶B抗体
规格：1mg/1ml
英文名： NAGA
别名： Acetylgalactosaminidase, alpha N (alpha galactosidase B); Alpha galactosidase B; Alpha N acetylgalactosaminidase; GALB; N acetylgalactosaminidase, alpha.
分子量： 47kDa
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 NAGA
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：
α-半乳糖苷酶B抗体产品介绍：background: NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008] Function: Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids. Subunit: Homodimer. Subcellular Location: Lysosome. DISEASE: Schindler disease (SCHIND) [MIM:609241]: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or α-半乳糖苷酶B抗体Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. Note: The disease is caused by mutations affecting the gene represented in this entry. α-半乳糖苷酶B抗体Ref.13 Ref.15 Kanzaki disease (KANZD) [MIM:609242]: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. Note: The disease is caused by mutations affecting the gene represented in this entry. Gene ID: 4668 Database links: Entrez Gene: 4668 Human Omim: 104170 Human SwissProt: P17050 Human Unigene: 75372 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
α-半乳糖苷酶B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：细胞生物 **学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid