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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].

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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

Rare

No Rare Variants Available

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 

No Gene Score Data Available

No Animal Model Data Available

 

No Interactions Available
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