LP19725-8
HFE gene.p.Cys282Tyr
Active
Description
Hereditary Hemochromatosis (HH) causes excess iron absorption that leads to iron deposits in tissues and organs, eventually leading to organ dysfunction. Two point mutations in the HLA locus of chromosome 6 are responsible for the majority of HH cases-C282Y and H63D mutations. The C282Y mutation prevents the interaction of the HFE protein with Beta-2 microglobulin and leads to an inability to bind the transferrin receptor. Information from Wikipedia 2006 10 24. Homozygous C282Y mutation accounts for up to 90% of hemochromatosis patients. C282Y and H63D or S65C heterozygotes are associated with milder forms of HH. Heterozygotes for any of these single mutations are not significantly associated with HH. Information from ARUP 2007 01 24. Source: Regenstrief Institute
Basic Part Properties
- Part Name
- HFE gene.p.Cys282Tyr
- Part Display Name
- HFE gene.p.Cys282Tyr
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- HFE p.C282Y
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HFE 基因.p.C282Y Synonyms: HFE p.C282Y |
| es-ES | Spanish (Spain) | Gen HFE p.C282Y |
| it-IT | Italian (Italy) | HFE, gene.p.Cys282Tyr Synonyms: Gene HFE p.Cys282Tyr |
| et-EE | Estonian (Estonia) | HFE geen.p.C282Y |
| tr-TR | Turkish (Turkey) | HFE geni.p.C282Y |
| ru-RU | Russian (Russian Federation) | HFE ген.p.C282Y |
| nl-NL | Dutch (Netherlands) | HFE-gen.p.C282Y Synonyms: HFE gen.p.C282Y |
| el-GR | Greek (Greece) | Γονίδιο HFE p.Cys282Tyr Synonyms: Γονίδιο HFE p.Cys282Tyr |
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