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L1CAM - L1 cell adhesion molecule
- Synonym(s) : CAML1, CD171, NCAM-L1, neural cell adhesion molecule L1
- Previous symbols and names : HSAS, HSAS1, MASA, MIC5, S10, SPG1, antigen identified by monoclonal antibody R1
- Type : gene with protein product
- Chromosomal location : Xq28
- OMIM: 308840
- HGNC: 6470
- UniProtKB: P32004
- Genatlas: L1CAM
- GenCC: L1CAM
- Ensembl: ENSG00000198910
- IUPHAR-DB: -
- Reactome: P32004
- LOVD: L1CAM
Diseases list
- Disease-causing germline mutation(s) in Hydrocephalus with stenosis of the aqueduct of Sylvius
ORPHA:2182 
- Disease-causing germline mutation(s) in MASA syndrome
ORPHA:2466 - Disease-causing germline mutation(s) in X-linked complicated corpus callosum dysgenesis
ORPHA:1497 - Disease-causing germline mutation(s) in X-linked complicated spastic paraplegia type 1
ORPHA:306617
: AssessedAdditional information
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