HMBS,卟胆原脱氨酶抗体

产品编号HZ-9068R
英文名称HMBS
中文名称卟胆原脱氨酶抗体
别 名HEM3_HUMAN; HMBS; Hydroxymethylbilane synthase; PBG D; PBG-D; PBGD; Porphobilinogen deaminase; Pre uroporphyrinogen synthase; Pre-uroporphyrinogen synthase; UPS; Uroporphyrinogen I synthase; Uroporphyrinogen I synthetase.
说 明 书0.1ml 0.2ml
研究领域肿瘤 细胞生物 免疫学 信号转导
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat, Chicken, Pig, Cow, Rabbit, Sheep, Cat,
HMBS,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.
分 子 量39kDa
细胞定位细胞浆
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human HMBS
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.
HMBS,卟胆原脱氨酶抗体PubMedPubMed
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 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.

HMBS,卟胆原脱氨酶抗体Similarity:
Belongs to the HMBS family.

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

HMBS,卟胆原脱氨酶抗体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，最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。