5-氨基乙酰丙酸合酶1抗体
规格：1尘驳/1尘濒
英文名： ALAS-E
别名： 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase; ALAS E; ALASE; ANH1; Delta aminolevulinate synthase; XLSA; 5 aminolevulinic acid synthase 2; 5-aminolevul
分子量： 59kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human ALAS2/AL
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞浆
5-氨基乙酰丙酸合酶1抗体产物介绍：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 5-氨基乙酰丙酸合酶1抗体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 be5-氨基乙酰丙酸合酶1抗体 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. Database links: Entrez Gene: 212 Human Entrez Gene: 11656 Mouse Entrez Gene: 25748 Rat Omim: 301300 Human SwissProt: P22557 Human SwissProt: P08680 Mouse SwissProt: Q63147 Rat Unigene: 522666 Human Unigene: 555936 Human Unigene: 302724 Mouse Unigene: 226279 Rat Unigene: 32517 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
5-氨基乙酰丙酸合酶1抗体产物应用：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 心血管 细胞生物 **学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid