Neurofascin is a protein that in humans is encoded by the NFASC gene. [5] [6] [7]
Neurofascin is a protein that in humans is encoded by the NFASC gene. [5] [6] [7]
Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development. [7] [8]
A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain. [9]
The L1 family is a family of cell adhesion molecules that includes four different L1-like proteins. They are members of the immunoglobulin superfamily. The members of the L1-family in humans are called L1 or L1cam, CHL1, Neurofascin and NRCAM. L1 family members are found on neurons, especially on their axons. Sometimes they are found on glia, such as Schwann cells, radial glia and Bergmann glia cells and, as such, are important for neural cell migration during development. L1 family members are expressed throughout the vertebrate and invertebrate kingdoms.
L1, also known as L1CAM, is a transmembrane protein member of the L1 protein family, encoded by the L1CAM gene. This protein, of 200-220 kDa, is a neuronal cell adhesion molecule with a strong implication in cell migration, adhesion, neurite outgrowth, myelination and neuronal differentiation. It also plays a key role in treatment-resistant cancers due to its function. It was first identified in 1984 by M. Schachner who found the protein in post-mitotic mice neurons.
Neural cell adhesion molecule L1-like protein also known as close homolog of L1 (CHL1) is a protein that in humans is encoded by the CHL1 gene.
Afadin is a protein that in humans is encoded by the AFDN gene.
Syntenin-1 is a protein that in humans is encoded by the SDCBP gene.
Junctional adhesion molecule A is a protein that in humans is encoded by the F11R gene. It has also been designated as CD321.
Syndecan-3 is a protein that in humans is encoded by the SDC3 gene.
Contactin 1, also known as CNTN1, is a protein which in humans is encoded by the CNTN1 gene.
Contactin-2 is a protein that in humans is encoded by the CNTN2 gene.
Neuronal cell adhesion molecule is a protein that in humans is encoded by the NRCAM gene.
Obscurin is a protein that in humans is encoded by the OBSCN gene. Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin. Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly. A mutation in the OBSCN gene has been associated with hypertrophic cardiomyopathy and altered obscurin protein properties have been associated with other muscle diseases.
Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene. Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome
Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.
Spectrin, beta, non-erythrocytic 4, also known as SPTBN4, is a protein that in humans is encoded by the SPTBN4 gene.
Cell adhesion molecule 3 is a protein that in humans is encoded by the CADM3 gene.
Cell adhesion molecule-related/down-regulated by oncogenes is a protein that in humans is encoded by the CDON gene.
Ankyrin-3 (ANK-3), also known as ankyrin-G, is a protein from ankyrin family that in humans is encoded by the ANK3 gene.
Tenascin-R is a protein that in humans is encoded by the TNR gene.
Contactin 6 is a protein in humans that is encoded by the CNTN6 gene.
CASPR also known as Contactin associated protein 1, Paranodin and CASPR1 is a protein that in humans is encoded by the CNTNAP1 gene. CASPR is a part of the neurexin family of proteins, hence its another name "Neurexin IV". CASPR is a membrane protein found in the neuronal membrane in the paranodal section of the axon[[]] in myelinated neurons, between the Nodes of Ranvier containing Na+ channels, and juxtaparanode, which contains K+ channels. During myelination, caspr associates with contactin in a cis complex, though its precise role in myelination is not yet understood.
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