HFE

Gene Information
 
Gene Symbol
HFE
 
Aliases
HFE1, HH, HLA-H, MVCD7, TFQTL2
 
Entrez Gene ID
 
Gene Name
Hemochromatosis
 
Chromosomal Location
6p21.3
 
HGNC ID
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006461 Biological process Protein complex assembly TAS 10638746
GO:0006879 Biological process Cellular iron ion homeostasis TAS 10638746
GO:0097459 Biological process Iron ion import into cell IDA 10085150
GO:0005769 Cellular component Early endosome IDA 15880641
GO:0005886 Cellular component Plasma membrane TAS 10638746
Protein Information
 
Protein Name
Hemochromatosis, hereditary hemochromatosis protein HLA-H , HH , HLAH , TFQTL2 , MHC class I-like protein HFE , HLA-H , HFE1 , high Fe , MVCD7 , hereditary hemochromatosis protein
 
Function
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00129 MHC_I Class I Histocompatibility antigen, domains alpha 1 and 2
PF07654 C1-set Immunoglobulin C1-set domain
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Hyperandrogenism 19401444
Inflammation 19401444
Insulin resistance 19401444
   
References
 
Primary:

Body iron stores and glucose intolerance in premenopausal women: role of hyperandrogenism, insulin resistance, and genomic variants related to inflammation, oxidative stress, and iron metabolism.

Martinez-Garcia M Angeles, Luque-Ramirez Manuel, San-Millan Jose L, Escobar-Morreale Hector F
Department of Endocrinology, Hospital Universitario Ramon y Cajal and Universidad de Alcala, Madrid, Spain.
Diabetes Care. 2009 Aug;32(8):1525-30. doi: 10.2337/dc09-0420. Epub 2009 Apr 28.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Insulin resistance, abnormal glucose tolerance,hyperandrogenism, and genotypes pertaining to inflammation, oxidative stress, and iron metabolism 
HFE His63Asp variant 
NIH, Rotterdam and Androgen Excess and PCOS Society criteria 
Related 
 
Androgen excess (partly because of hyperandrogenemia and partly because of menstrual dysfunction), insulin resistance, abnormal glucose tolerance, and the HFE His63Asp variant correlate with ferritin levels in premenopausal women 

 

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