Hfe Protein

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Alternative-splicing 5 Expression 6 Pathology 7 More General Terms 8 Internet Database 9 References

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

• hereditary hemochromatosis
• porphyria cutanea tarda
• variegate porphyria
• susceptibility to diabetic nephropathy

More General Terms

• membrane protein
• glycoprotein

Internet Database

Entrez gene: 3077
Kegg: [1]
OMIM: 176200
OMIM: 235200
OMIM: 612635
Prosite: [2]
Prosite: [3]
UniProt: [4]

References

1. UniProt [5]
2. Atlas of Genetics & Cytogenetics in Oncology & Haematology [6]
3. GeneReviews [7]
4. NIEHS-SNPs [8]

Hereditary hemochromatosis protein; HLA-H (HFE HLAH)