Hereditary hemochromatosis protein; HLA-H (HFE HLAH)
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Function
- binds to transferrin receptor (TFR) & reduces its affinity for iron-loaded transferrin
- binds TFR through the extracellular domain (pH-dependent)
Structure
- belongs to the MHC class I family
- contains 1 Ig-like C1-type (immunoglobulin-like) domain
Compartment
- membrane; single-pass type 1 membrane protein
Alternative splicing
- named isoforms=10
- at least some isoforms may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay
Expression
- expressed within crypt enterocytes of duodenum
- expressed in all tissues except brain
Pathology
- defective protein in
Laboratory
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q30201.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/HFEID44099ch6p22.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/HFE
- ↑ NIEHS-SNPs http://egp.gs.washington.edu/data/hfe/
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3077
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3077
- OMIM: https://mirror.omim.org/entry/176200
- OMIM: https://mirror.omim.org/entry/235200
- OMIM: https://mirror.omim.org/entry/612635
- UniProt: http://www.uniprot.org/uniprot/Q30201.html