Version 2.80

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] 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
NF1 gene
Part Display Name
NF1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
NF1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19747-2
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19747-2

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) NF1 基因
Synonyms: 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
es-ES Spanish (Spain) Gen NF1
it-IT Italian (Italy) NF1, gene
Synonyms: Gene NF1
et-EE Estonian (Estonia) NF1 geen
tr-TR Turkish (Turkey) NF1 geni
ru-RU Russian (Russian Federation) NF1 ген
nl-NL Dutch (Netherlands) NF1-gen
Synonyms: NF1 gen
el-GR Greek (Greece) Γονίδιο NF1
Synonyms: Γονίδιο NF1