L1 Cell Adhesion Molecule

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OMIM Number

308840

NCBI Gene ID

3897

Uniprot ID

P32004

Length

24,660 bases

No. of Exons

29

No. of isoforms

3

Protein Name

Neural Cell Adhesion Molecule L1

Molecular Mass

140003 Da

Amino Acid Count

1257

Genomic Location

X:153,861,513-153,886,172

Gene Map Locus
Xq28

Description

The L1 cell adhesion molecule is a member of an evolutionarily well-conserved superfamily of immunoglobulin (Ig)-related CAMs that have essential functions in the developing nervous system, especially during neurogenesis, neuronal migration, and axonal growth and guidance. Structurally, L1 cell adhesion is an integral glycoprotein with a complex ectodomain consisting of multiple immunoglobulin and fibronectin-like repeats.

The L1 cell adhesion molecule (L1CAM) plays a key role in neuronal migration and neurite outgrowth by mediation of axon bundling. It is a member of a large class of immunoglobulin superfamily cell adhesion molecules (CAMs), which mediate cell-to-cell adhesion at the cell surface. L1CAM is a 200-kDa transmembrane glycoprotein, containing six Ig-like domains in the amino-terminal region, followed by five fibronectin type III repeats, one transmembrane domain, and a cytoplasmic domain.

Mutation in the L1-CAM gene display a phenotype, which includes a range of severe neurological dysfunctions, including X-linked hydrocephalus, MASA syndrome, X-linked complicated spastic paraparesis and X-linked corpus callosum agenesis. Clinical variability is large between and sometimes within families. As the most typical features of L1-associated disease include corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia and hydrocephalus, the acronym CRASH syndrome has been proposed.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001278116.2:c.604G>TUnited Arab EmiratesNC_000023.11:g.153870880C>ALikely PathogenicMASA SyndromeNG_009645.3:g.43344G>T; NM_001278116.2:c.604G>T; NP_001265045.1:p.Asp202Tyr
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