基因名称(Gene Name)
HIST2H2BC
蛋白名称
Putative histone H2B type 2-C (Histone H2B.t) (H2B/t)
免疫原
Synthesized peptide derived from human H2B2C AA range: 82-132
特异性
This antibody detects endogenous levels of human H2B2C
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011],
功能
disease:Defects in TFR2 are a cause of hereditary hemochromatosis type 3 (HFE3) [MIM:604250]. HFE3 is a disorder of iron hemostasis resulting in iron overload and has a phenotype indistinguishable from that of hereditary hemochromatosis (HH). HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects.,function:Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.,miscellaneous:The vari
