Člen imunoglobulinové nadrodiny molekul adheze nervových buněk, který je nezbytný pro správný vývoj nervového systému. Molekula adheze nervových buněk L1 se skládá ze šesti Ig domén, pěti fibronektinových domén, transmembránové oblasti a intracelulární domény. Jsou známy dvě varianty sestřihu: neuronální forma, která obsahuje čtyřaminokyselinovou sekvenci RSLE v cytoplazmatické doméně, a ne-neuronální forma, která sekvenci RSLE postrádá. Mutace v genu L1 vedou k L1 syndromu. Molekula adheze nervových buněk L1 je během vývoje převážně exprimována v neuronech a Schwannových buňkách; podílí se na buněčné adhezi, migraci neuronů, růstu axonů a hledání jejich cesty a na myelinizaci.

A member of the immunoglobulin superfamily of neuronal cell adhesion molecules that is required for proper nervous system development. Neural cell adhesion molecule L1 consists of six Ig domains, five fibronectin domains, a transmembrane region and an intracellular domain. Two splicing variants are known: a neuronal form that contains a four-amino acid RSLE sequence in the cytoplasmic domain, and a non-neuronal form that lacks the RSLE sequence. Mutations in the L1 gene result in L1 disease. Neural cell adhesion molecule L1 is predominantly expressed during development in neurons and Schwann cells; involved in cell adhesion, neuronal migration, axonal growth and pathfinding, and myelination.

DUI

D039842 MeSH Prohlížeč

CUI

M0122500

Předchozí užití

Neural Cell Adhesion Molecules (1996-2002); Antigens, Surface (1992-2002); Cell Adhesion Molecules, Neuronal (1992-2002); Membrane Glycoproteins (1992-2002)

Historická pozn.

2003; use NEURAL CELL ADHESION MOLECULE L1 (NM) 1983-2002; for NEURAL CELL ADHESION MOLECULE L1; F11 GLYCOPROTEIN; CELL ADHESION MOLECULE L1; CAML1 GENE PRODUCT; CELL SURFACE GLYCOPROTEIN L1; L1 CELL ADHESION MOLECULE; L1 CAM & NEURAL ADHESION MOLECULE L1 use LEUKOCYTE L1 ANTIGEN COMPLEX (NM) 1992-2002; for CALL PROTEIN use LEUKOCYTE L1 ANTIGEN COMPLEX (NM) 1999-2002; for NILE PROTEIN use LEUCKCYTE L1 ANTIGEN COMPLEX (NM) 1996-2002

Veřejná pozn.

2003; NERVE GROWTH FACTOR-INDUCIBLE LARGE EXTERNAL GLYCOPROTEIN (now NEURAL CELL ADHESION MOLECULE L1) was indexed under MEMBRANE GLYCOPROTEINS 1988-2002 & GLYCOPROTEINS 1983-1987; NEURAL CELL ADHESION MOLECULE L1; F11 GLYCOPROTEIN; CELL ADHESION MOLECULE L1; CAML1 GENE PRODUCT; CELL SURFACE GLYCOPROTEIN L1; L1 CELL ADHESION MOLECULE; L1 CAM & NEURAL ADHESION MOLECULE L1 were indexed under MEMBRANE GLYCOPROTEINS 1992-2002, NEURAL CELL ADHESION MOLECULES 1996-2002, CELL ADHESION MOLECULES, NEURONAL 1992-1995 & ANTIGENS, SURFACE 1984-1991; CALL PROTEIN was indexed under MEMBRANE GLYCOPROTEINS 1999-2002 & NEURAL CELL ADHESION MOLECULES 1999-2002; NILE PROTEIN was indexed under MEMBRANE GLYCOPROTEINS 1992-2002 & NEURAL CELL ADHESION MOLECULES 1996-2002