- accession:NM_139004
- 基因别名:HFE
- 基因描述:Homo sapiens hemochromatosis (HFE), transcript variant 4, mRNA.
- 载体:现货载体
- CDS区长度:771
- 翻译后氨基酸长度:256
- TranscriptVariant:This variant (4) lacks an internal in-frame segment of the coding region, compared to variant 1, resulting in a shorter protein (isoform 4).
- 基因简介:The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
- 规格:10ul 质粒
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