HFE (NM_139004) Human Untagged Clone
HFE (untagged)-Human hemochromatosis (HFE), transcript variant 4
|Product Name||HFE (NM_139004) Human Untagged Clone|
|Synonyms||HFE1; HH; HLA-H; MVCD7; TFQTL2|
Fully Sequenced ORF
>NCBI ORF sequence for NM_139004, the custom clone sequence may differ by one or more nucleotides
|ORF Size||771 bp|
|OTI Disclaimer||Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).|
|OTI Annotation||This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA|
|Product Components||The cDNA clone is shipped in a 2-D bar-coded Matrix tube as dried plasmid DNA. The package also includes 100 pmols of both the corresponding 5' and 3' vector primers in separate vials. Every lot of primer is tested to provide clean sequencing of OriGene TrueClones.|
|Protein Families||Transmembrane, Druggable Genome|
|Gene Summary||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].
Transcript Variant: This variant (4) lacks an internal in-frame segment of the coding region, compared to variant 1, resulting in a shorter protein (isoform 4). CCDS Note: This CCDS ID represents a variant of the HFE gene that lacks an internal coding exon compared to the longest variant, which is represented by CCDS4578.1. This results in an isoform that includes the Immunoglobulin constant region (IGc) domain but lacks a portion of the Class I Histocompatibility antigen (MHC_I) domain.
|cDNA Clone Resources|