LP19747-2     NF1 gene

DESCRIPTION
  Part: NF1 gene
  Description: The NF1 gene (neurofibromin 1) [HGNC Gene ID:7765] is located on chromosome 17q11.2. This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4763]
 
 

BASIC PART PROPERTIES
  Type: COMPONENT
  Status: ACTIVE
  Created On: 5/4/2000

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
  NF1 基因     WSS;多发性神经纤维瘤;多发性神经纤维瘤病;沃森病;神经纤维瘤;神经纤维瘤病;神经纤维瘤蛋白 1;神经纤维瘤蛋白 1 (Neurofibromin 1);神经纤维蛋白 1;神经纤维蛋白 1 (Neurofibromin 1);范-瑞克林豪森氏病;雷克林霍森氏病;Neurofibromin 1;NFNS;von Recklinghausen 氏病;von Recklinghausen 病;Von Recklinghausen 综合征;VRNF;Watson 病
 
  Dutch (NETHERLANDS)  (From: NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)   SYNONYMS
  NF1-gen     NF1 gen
 
  Estonian (ESTONIA)  (From: Estonian E-Health Foundation)    
  NF1 geen      
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)   SYNONYMS
  NF1, gene     Gene NF1
 
  Russian (RUSSIAN FEDERATION)  (From: Yaroslavl State Medical Academy)    
  NF1 ген      
 
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)   SYNONYMS
  Gen NF1     Enfermedad de von Recklinghausen
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  NF1 geni      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 9:53:57 AM
  Display name: NF1 gene
  Preferred Abbreviation: NF1 gene