卟胆原脱氨酶抗体
规格：1mg/1ml
英文名： HMBS
别名： HEM3_HUMAN; HMBS; Hydroxymethylbilane synthase; PBG D; PBG-D; PBGD; Porphobilinogen deaminase; Pre uroporphyrinogen synthase; Pre-uroporphyrinogen synthase; UPS; Uroporphyrinogen I synthase; Uroporphy
分子量： 39kDa
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 HMBS
交叉反应：Human, Mouse, Rat, Chicken, Pig, Cow, Rabbit, Sheep, Cat,
细胞定位：细胞浆
卟胆原脱氨酶抗体产品介绍：background: This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Function: Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps. Subcellular Location: Cytoplasm. Tissue Specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells. DISEASE: Defects in HMBS are the cause of acute intermittent porphyria (AIP) [MIM:176000]. AIP is a form of porphyria. Porphyrias are inherited defects in the biosynthesis卟胆原脱氨酶抗体 of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by acute attacks of neurological dysfunctions with abdominal pain, hypertension, tachycardia, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Similarity: Belongs to the HMBS family.卟胆原脱氨酶抗体 Gene ID: 3145 Database links: Entrez Gene: 3145 Human Entrez Gene: 15288 Mouse Entrez Gene: 396581 Pig Entrez Gene: 25709 Rat Omim: 609806 Human SwissProt: P08397 Human SwissProt: P22907 Mouse SwissProt: P19356 Rat Unigene: 82609 Human Unigene: 247676 Mouse Unigene: 11080 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 卟胆原脱氨酶，为血红素等四吡咯环化合物合成通路中的催化酶。PBGD催化卟胆原(Porphobilingen，PBG)底物的线性四聚化，反应过程中四分子卟胆原底物有序性的共价连接到酶的辅基上，*后水解形成具有四联吡咯环结构的尿卟啉原前体。PBGD的活力缺陷会引起急性间歇性卟啉症(Acute Intermittant Porphyria，AIP)的发生。
卟胆原脱氨酶抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （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：肿瘤 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