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- accession：NM_213653
- 基因别名：HFE2
- 基因描述：Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.
- 载体：现货载体
- CDS区长度：1281
- 翻译后氨基酸长度：426
- TranscriptVariant：This variant (a) represents the longest transcript, and encodes the longest isoform (a).
- 基因简介：The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Jul 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
