21693-7
HP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19861-1 Hereditary pancreatitis gene
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
Fully-Specified Name
- Component
- Hereditary pancreatitis gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- HP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- HP gene Mut Tested Bld/T
- Display Name
- HP gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- HP gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.13
- Order vs. Observation
- Observation
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | determinación de mutaciones del gen de la pancreatitis hereditaria: |
| es-ES | Spanish (Spain) | Gen pancreatitis hereditaria Análisis de mutaciones para...: |
| es-MX | Spanish (Mexico) | Mutaciones del gen de la pancreatitis hereditaria analizadas para: |
| fr-FR | French (France) | Pancréatite gène mutation recherchée: |
| it-IT | Italian (Italy) | Pancreatite ereditaria, gene, mutazioni testate per: Synonyms: Gene della pancreatite ereditaria Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | 선천성 이자염 유전자 돌연변이 분석용: |
| nl-NL | Dutch (Netherlands) | erfelijke pancreatitisgen geteste mutaties: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Pancreatite hereditária teste para mutação do gene: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Наследственный панкреатит ген мутации тестирован на: Synonyms: Ген наследственного панкреатита Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Herediter pankreatit geni mutasyonlar, test edilen: |
| zh-CN | Chinese (China) | 遗传性胰腺炎基因 已测试的突变: Synonyms: HP 基因; |
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