Gene: NFASC

Alternate names for this Gene: NEDCPMD|NF|NRCAML

Gene Summary: This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: neurofascin

Type of Gene: protein-coding

rs12043259 in NFASC gene and Addictive Behavior PMID 23533358 2013 NCK2 is significantly associated with opiates addiction in African-origin men.

rs6663324 in NFASC gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs147964682 in NFASC gene and Circadian Rhythms PMID 30120083 2018 Genome-Wide Association Study of Circadian Rhythmicity in 71,500 UK Biobank Participants and Polygenic Association with Mood Instability.

rs76242821 in NFASC gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2278796 in NFASC gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12043259 in NFASC gene and Substance-Related Disorders PMID 23533358 2013 NCK2 is significantly associated with opiates addiction in African-origin men.