Gene_Is_Element_In_Pathway
Gene_In_Chromosomal_Location
L1CAM Gene
L1CAM wt Allele
308840
3897
Antigen Identified By Monoclonal Antibody R1 Gene
C112137
C3810647
CAML1
CD171
CTRP
Gene or Genome
HSAS
HSAS1
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.
L1 Cell Adhesion Molecule wt Allele
L1-CAM
L1CAM wt Allele
L1CAM wt Allele
L1CAM wt Allele
M74387
MASA
MIC5
N-CAM-L1
N-CAML1
NCAM-L1
S10
SPG1
CTRP Terminology
Xq28
CTRP Biomarker Terminology
CTRP Molecular Genetic Biomarker Terminology
Axon Guidance Pathway
Cell Adhesion Molecule Signaling Pathway