LP19861-1
Hereditary pancreatitis gene
Active
Description
The HP gene encodes a preproprotein, which yields both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin binds free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq NCBI] Source: National Center for Biotechnology Information (NCBI) Gene, HP 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 |
| 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
- HP gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- HP gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP19861-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 遗传性胰腺炎基因 Synonyms: HP 基因; |
| et-EE | Estonian (Estonia) | Päriliku pankreatiidi geen |
| es-ES | Spanish (Spain) | Gen pancreatitis hereditaria |
| it-IT | Italian (Italy) | Pancreatite ereditaria, gene Synonyms: Gene della pancreatite ereditaria |
| tr-TR | Turkish (Turkey) | Herediter pankreatit geni |
| ru-RU | Russian (Russian Federation) | Наследственный панкреатит ген Synonyms: Ген наследственного панкреатита |
| nl-NL | Dutch (Netherlands) | erfelijke pancreatitisgen |
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