NEFL
Homo sapiens
Gene Name: Neurofilament, light polypeptide
Aliases: CMT1F, CMT2E, NF-L, NF68, NFL
Chromosome No: 8
Chromosome Band: 8p21.2
Genetic Category: Genetic association/functional-Rare single gene variant
Aliases: CMT1F, CMT2E, NF-L, NF68, NFL
Chromosome No: 8
Chromosome Band: 8p21.2
Genetic Category: Genetic association/functional-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 13
Evidence score: 0
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 13
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
NEFL showed consistently reduced expression in three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients. NEFL also showed genetic association with autism in Caucasian families (P=0.038; Z-score 2.066) (Anitha et al., 2012).
Molecular Function
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] and Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Brain region-specific altered expression and association of mitochondria-related genes in autism.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN439C001
3_prime_UTR_variant
rs2979704
c.*1256G>A
841 Caucasian families from AGRE
Discovery
