人铁蛋白重链抗体对
01AB00240
FTH1 encodes the heavy subunit of ferritin, the major intracellular iron storage protein. Its main function is to store iron in a soluble and nontoxic state. Aberrant expression of FTH1 has been associated with various cancers, where high FTH1 levels predict poor prognosis and increased metastasis, particularly in head and neck squamous cell carcinoma. Variants in FTH1 have also been linked to a rare disorder of iron metabolism characterized by elevated serum ferritin, increased iron, and heavy iron deposition in organs like the liver, heart, and bone marrow. Additionally, heterozygous nonsense variants in the final exon of FTH1 have been found to cause a novel neurodegeneration with brain iron accumulation (NBIA) disorder in children, leading to ferritin aggregation and oxidative stress.
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技术参数
- 靶点基因名
- FTH1
- 基因别名
- FTH; FTHL6
- 蛋白别名
- ferritin heavy chain 1; Ferritin Heavy Chain
- UniProt
- P02794
- 物种
- Human
产品详情
- 靶点名称
- Ferritin Heavy Chain
- 蛋白名称
- ferritin heavy chain 1
- 蛋白别名
- Ferritin heavy chain; Ferritin H subunit; Cell proliferation-inducing gene 15 protein) [Cleaved into: Ferritin heavy chain; N-terminally processed]
- 靶点基因名
- FTH1
- 基因别名
- FTH; FTHL6
- UniProt
- P02794
- 来源物种
- /
背景介绍
FTH1 encodes the heavy subunit of ferritin, the major intracellular iron storage protein. Its main function is to store iron in a soluble and nontoxic state. Aberrant expression of FTH1 has been associated with various cancers, where high FTH1 levels predict poor prognosis and increased metastasis, particularly in head and neck squamous cell carcinoma. Variants in FTH1 have also been linked to a rare disorder of iron metabolism characterized by elevated serum ferritin, increased iron, and heavy iron deposition in organs like the liver, heart, and bone marrow. Additionally, heterozygous nonsense variants in the final exon of FTH1 have been found to cause a novel neurodegeneration with brain iron accumulation (NBIA) disorder in children, leading to ferritin aggregation and oxidative stress.