产品名称
HEM4 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/7390
Human Swissprot No.
P10746
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P10746/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/22276
Mouse Swissprot No.
P51163
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P51163
免疫原
Synthesized peptide derived from human HEM4 AA range: 25-75
特异性
This antibody detects endogenous levels of HEM4 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008],
细胞定位
mitochondrion,cytosol,
功能
catalytic activity:Hydroxymethylbilane = uroporphyrinogen III + H(2)O.,disease:Defects in UROS are the cause of congenital erythropoietic porphyria (CEP) [MIM:263700]; also known as Gunther disease. 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. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.,disease:Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis [MIM:236750]. Hydrops fetalis is a generalized edema of the fetus with fluid accumulation in the body cavities.,pathway:Porphyrin metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 3/4.,subunit:Monomer.,tissue specificity:Ubiquitous.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
