產(chǎn)品編號 yb-9516R
英文名稱 Anti-ALAS-E抗體
中文名稱 5-氨基乙酰丙酸合酶1抗體
別    名 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase; ALAS E; ALASE; ANH1; Delta aminolevulinate synthase; XLSA; 5 aminolevulinic acid synthase 2; 5-aminolevulinate synthase 2; 5-aminolevulinate synthase; 5-aminolevulinate synthase 2; Alas 2; ALAS; ALAS E; ALAS, erythroid; ALASE; Aminolevulinate, delta-, synthase 2; Aminolevulinic acid synthase 2, erythroid; ANH1; ASB; Delta ALA synthase 2; Delta ALA synthetase; Delta aminolevulinate synthase 2; Delta aminolevulinate synthase; Erythroid specific ALAS; FLJ93603; XLDPP; XLSA.
Anti-ALAS-E抗體  
說 明 書 0.2ml  
研究領(lǐng)域 腫瘤  心血管  細(xì)胞生物  免疫學(xué)  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep, 
產(chǎn)品應(yīng)用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （石蠟切片需做抗原修復(fù)） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 59kDa
細(xì)胞定位 細(xì)胞漿 
性    狀 Lyophilized or Liquid
濃    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human ALAS2/ALAS-E
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 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
產(chǎn)品介紹 background:
5-aminolevulinate synthase 1 (ALAS-H) and 2 (ALAS-E) are two isoforms of ALAS, an enzyme catalyzing the first step of the heme biosynthetic pathway in mammals. The erythroid-specific isoenzyme, ALAS-E, regulates the first step of hematopoietic cell differentation and iron metabolism in the liver. ALAS-H is a housekeeping protein which mediates synthesis of early heme in the mitochondria of most cells. Succinyl CoA associates with ALAS-E in protein conformation change and translocation of ALAS-E into the mitochondria and does not interact with ALAS-H. The ALAS-E 5'-flanking region contains binding sites for nuclear activators such as GATA-1, NF-E2 and EKLF. Since the ALAS gene maps to the X chromosome, mutation of the gene leads to the pyridoxine-refractory X-linked sideroblastic anemia.

Subunit:
Homodimer. Interacts with SUCLA2. 

Subcellular Location:
Mitochondrion matrix

Tissue Specificity:
Erythroid specific.

DISEASE:
Defects in ALAS2 are a cause of anemia sideroblastic X-linked (XLSA) [MIM:300751]. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. XLSA shows a variable hematologic response to pharmacologic doses of pyridoxine.
Defects in ALAS2 are the cause of erythropoietic protoporphyria X-linked dominant (XLDPT) [MIM:300752]. 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. XLDPT is a form of porphyria characterized biochemically by a high proportion of zinc-protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. Note=Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041). 

Similarity:
Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.