LP19724-1
HFE gene
Active
Descriptions
Hemochromatosis (HFE) gene mutation analysis confirms the diagnosis of hereditary hemochromatosis (HH) when serum transferrin-iron saturation results are elevated. HH is the most common autosomal recessive disease in the Caucasian population. HH causes excess iron absorption that leads to iron deposits in tissues and organs, eventually leading to organ dysfunction and failure. HH can also cause cirrhosis, hepatomas, diabetes, cardiomyopahty, arthritis, and hypogonadotrophic hypogonadism. Source: Regenstrief Institute
The HFE gene (hemochromatosis) [HGNC Gene ID:4886] is located on chromosome 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 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] [NCBI Gene ID:3077] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- HFE gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- HFE gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HFE 基因 Synonyms: HH; |
| fr-CA | French (Canada) | Gène HFE |
| et-EE | Estonian (Estonia) | HFE geen |
| es-ES | Spanish (Spain) | Gen HFE |
| it-IT | Italian (Italy) | HFE, gene Synonyms: Gene HFE |
| tr-TR | Turkish (Turkey) | HFE geni |
| ru-RU | Russian (Russian Federation) | HFE ген |
| nl-NL | Dutch (Netherlands) | HFE-gen Synonyms: HFE gen |
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