LP31880-5
PRF1 gene
Active
Description
The PRF1 gene (perforin 1 (pore forming protein)) [HGNC Gene ID:9360] is located on chromosome 10q22. The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5551] 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 Name
- PRF1 gene
- Part Display Name
- PRF1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-08-08
- Construct for LOINC Short Name
- PRF1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PRF1 基因 Synonyms: HPLH2; |
| es-ES | Spanish (Spain) | Gen PRF1 |
| it-IT | Italian (Italy) | PRF1, gene Synonyms: Gene PRF1 |
| et-EE | Estonian (Estonia) | PRF1 geen |
| tr-TR | Turkish (Turkey) | PRF1 geni |
| ru-RU | Russian (Russian Federation) | PRF1 ген |
| nl-NL | Dutch (Netherlands) | PRF1-gen Synonyms: PRF1 gen |
| el-GR | Greek (Greece) | Γονίδιο PRF1 Synonyms: Γονίδιο PRF1 |
LOINC Copyright
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