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 How to ensure accurate weighing results every day? What is the Correct Way to Check Repeatability in Balances? What is the Sensitivity of my Balance? 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