L1CAM wt Allele

Preferred Label : L1CAM wt Allele;

NCIt synonyms : MIC5; L1 Cell Adhesion Molecule wt Allele; S10; HSAS; L1-CAM; CD171; Antigen Identified By Monoclonal Antibody R1 Gene; NCAM-L1; CAML1; HSAS1; N-CAML1; MASA; N-CAM-L1; SPG1;

NCIt definition : Human L1CAM wild-type allele is located in the vicinity of Xq28 and is approximately 48 kb in length. This allele, which encodes neural cell adhesion molecule L1 protein, is involved in neuron-neuron cell adhesion, axon guidance and bundling of neurons. Mutation of the gene is associated with hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS), mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA or CRASH syndrome), spastic paraplegia 1, X-linked and agenesis of the corpus callosum, X-linked, partial and may contribute to intestinal aganglionosis in Hirschsprung disease.;

GenBank Accession Number : M74387;

Details

Origin ID

C112137;

UMLS CUI

C3810647;

Automatic exact mappings (from CISMeF team)
- 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity [GO term]
- Hydrocephalus with stenosis of the aqueduct of Sylvius [ORDO Disease]
- Hydrocephalus, congenital, X-linked [OMIM Phenotype]
- L1 cell adhesion molecule [ORDO Gene]
- L1 cell adhesion molecule [OMIM gene]
- MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome [MeSH Supplementary Concept]
- MASA syndrome [DO Concept]
- Masa syndrome [OMIM Phenotype]
- X-linked complicated spastic paraplegia type 1 [ORDO Disease]
- methyl N-acetylsibirosaminide [MeSH Supplementary Concept]
- neural cell adhesion molecule L1 [MeSH Descriptor]
- ribosomal protein S10 [ORDO Gene]
OMIM relation
- L1 cell adhesion molecule [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_is_element_in_pathway
- Axon Guidance Pathway [NCIt concept]
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Cellular Migration Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neural Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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