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Protein Coding Gene : L1cam L1 cell adhesion molecule

Primary Identifier  MGI:96721 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  16728
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables several functions, including identical protein binding activity; integrin binding activity; and sialic acid binding activity. Acts upstream of or within several processes, including cell-cell adhesion mediated by integrin; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and homophilic cell adhesion via plasma membrane adhesion molecules. Located in external side of plasma membrane; presynaptic membrane; and terminal bouton. Is active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and urinary system. Used to study MASA syndrome. Human ortholog(s) of this gene implicated in MASA syndrome; hydrocephalus; ovarian carcinoma; pancreatic cancer; and schizophrenia. Orthologous to human L1CAM (L1 cell adhesion molecule).
PHENOTYPE: Homozygous null mutants have reduced size, lessened sensitivity to touch and pain, weakness and incoordination of hind-legs, reduced corticospinal tract, impaired guidance of retinal and corticospinal axons, and in some cases, enlarged lateral ventricles. A hypomorphic line shows background effects. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-11706,
  • NCAM-L1,
  • L1 cell adhesion molecule,
  • CD171,
  • L1,
  • L1-NCAM,
  • L1cam

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Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

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Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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