Version 2.78

Description

The NEFL gene (neurofilament, light polypeptide) [HGNC Gene ID:7739] is located on chromosome 8p21. Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008] [NCBI Gene ID:4747] 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
NEFL gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-10-28
Construct for LOINC Short Name
NEFL gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP32709-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP32709-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) NEFL 基因
Synonyms: CMT2E;NF68;NFL;NF-L;神经丝, 轻链多肽基因;神经丝轻链基因;神经微丝蛋白, 轻链多肽基因;神经微丝蛋白轻链基因
et-EE Estonian (Estonia) NEFL geen
es-ES Spanish (Spain) Gen NEFL
it-IT Italian (Italy) NEFL, gene
Synonyms: Gene NEFL
tr-TR Turkish (Turkey) NEFL geni
ru-RU Russian (Russian Federation) NEFL ген
nl-NL Dutch (Netherlands) NEFL-gen
Synonyms: NEFL gen