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NFASC

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Oligodendrocytes, Horizontal cells, Rod photoreceptor cells, Bipolar cells, Excitatory neurons, Inhibitory neurons, Oligodendrocyte precursor cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (BJ, fHDF/TERT166, hTERT-RPE1, SCLC-21H, U-138 MG, U-87 MG)

Interaction

Horseshoe-shaped homodimer. Probable constituent of a NFASC/NRCAM/ankyrin-G complex. Associates with the sodium channel beta-1 (SCN1B) and beta-3 (SCN3B) subunits. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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