Version 2.77

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 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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP31880-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP31880-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PRF1 基因
Synonyms: HPLH2;P1;PFP;孔形成蛋白;孔形成蛋白基因;成孔蛋白;成孔蛋白基因;穿孔素 1;穿孔素基因;穿孔蛋白;细胞溶素;细胞膜孔形成蛋白基因
et-EE Estonian (Estonia) PRF1 geen
es-ES Spanish (Spain) Gen PRF1
it-IT Italian (Italy) PRF1, gene
Synonyms: Gene PRF1
tr-TR Turkish (Turkey) PRF1 geni
ru-RU Russian (Russian Federation) PRF1 ген
nl-NL Dutch (Netherlands) PRF1-gen
Synonyms: PRF1 gen