LP31880-5     PRF1 gene

DESCRIPTION
  Part: PRF1 gene
  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]
 
 

BASIC PART PROPERTIES
  Type: COMPONENT
  Status: ACTIVE
  Created On: 8/8/2003

WEB CONTENT
  Copyright: OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
 
 

LANGUAGE VARIANTS
 
  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  PRF1 基因     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
 
  Dutch (NETHERLANDS)  (From: NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)   SYNONYMS
  PRF1-gen     PRF1 gen
 
  Estonian (ESTONIA)  (From: Estonian E-Health Foundation)    
  PRF1 geen      
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)   SYNONYMS
  PRF1, gene     Gene PRF1
 
  Russian (RUSSIAN FEDERATION)  (From: Yaroslavl State Medical Academy)    
  PRF1 ген      
 
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)   SYNONYMS
  Gen PRF1     Gen proteína formadora de poro
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  PRF1 geni      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 1:49:45 PM
  Display name: PRF1 gene
  Preferred Abbreviation: PRF1 gene