HFE (gene)

Hemochromatosis
PDB rendering based on 1a6z.
Available structures: 1a6z, 1de4
Identifiers
Symbol(s)	HFE; HH; HFE1; HLA-H; MGC103790; dJ221C16.10.1
External IDs	OMIM: 235200 MGI: 109191 Homologene: 88330
Gene Ontology Molecular Function: • iron ion binding Cellular Component: • cytoplasm • plasma membrane • integral to plasma membrane • MHC class I protein complex Biological Process: • antigen processing and presentation of peptide antigen via MHC class I • protein complex assembly • ion transport • iron ion transport • cellular iron ion homeostasis • receptor-mediated endocytosis • immune response • antigen processing and presentation
RNA expression pattern
Additional recommended knowledge Don't let static charges disrupt your weighing accuracy Correct Test Weight Handling Guide: 12 Practical Tips Better weighing performance in 6 easy steps More reference expression data
Orthologs
	Human	Mouse
Entrez	3077	15216
Ensembl	ENSG00000010704	ENSMUSG00000006611
Uniprot	Q30201	Q5SZ88
Refseq	NM_000410 (mRNA) NP_000401 (protein)	NM_010424 (mRNA) NP_034554 (protein)
Location	Chr 6: 26.2 - 26.21 Mb	Chr 13: 23.71 - 23.72 Mb
Pubmed search	[1]	[2]

HFE gene (hemochromatosis) is a gene located on short arm of chromosome 6 at location 6p21.3.

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 eleven alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined.^[1]

The gene has two mutant alleles at different loci, H63D and C282Y, which follow an autosomal recessive inheritance pattern and influence iron levels.

References

Further reading