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L1CAM L1 cell adhesion molecule

Gene ID: 3897, updated on 6-Sep-2021
Gene type: protein coding
Also known as: S10; HSAS; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1

Summary

The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-12-02)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-02)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq28
Sequence:
Chromosome: X; NC_000023.11 (153861514..153886173, complement)
Total number of exons:
29

Links

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