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Aliases for L1CAM Gene

Aliases for L1CAM Gene

  • L1 Cell Adhesion Molecule 2 3 5
  • Antigen Identified By Monoclonal Antibody R1 2 3
  • Neural Cell Adhesion Molecule L1 2 3
  • N-CAM-L1 3 4
  • NCAM-L1 3 4
  • CAML1 3 4
  • MIC5 3 4
  • CD171 Antigen 4
  • N-CAML1 3
  • CD171 3
  • HSAS1 3
  • HSAS 3
  • MASA 3
  • SPG1 3
  • S10 3

External Ids for L1CAM Gene

Previous HGNC Symbols for L1CAM Gene

  • HSAS1
  • SPG1
  • HSAS
  • MASA
  • MIC5
  • S10

Previous GeneCards Identifiers for L1CAM Gene

  • GC0XM147264
  • GC0XM149581
  • GC0XM150712
  • GC0XM151595
  • GC0XM152648
  • GC0XM152780
  • GC0XM153126
  • GC0XM141783

Summaries for L1CAM Gene

Entrez Gene Summary for L1CAM Gene

  • 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]

GeneCards Summary for L1CAM Gene

L1CAM (L1 Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with L1CAM include Masa Syndrome and Corpus Callosum, Partial Agenesis Of, X-Linked. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Basigin interactions. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein self-association. An important paralog of this gene is NRCAM.

UniProtKB/Swiss-Prot for L1CAM Gene

  • Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.

Gene Wiki entry for L1CAM Gene

Additional gene information for L1CAM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for L1CAM Gene

Genomics for L1CAM Gene

GeneHancer (GH) Regulatory Elements for L1CAM Gene

Promoters and enhancers for L1CAM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ153884 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 650.7 +0.1 69 3 CTCF KLF1 MAX KLF17 ZIC2 RAD21 HIC1 ZFHX2 GATA3 GLIS2 L1CAM RENBP TMEM187 HCFC1 SNORA70 PDZD4 IDH3G SSR4 SRPK3 PLXNB3
GH0XJ153878 Promoter/Enhancer 1.1 EPDnew ENCODE 650.4 +6.8 6805 1 HDGF PKNOX1 MXI1 ZNF398 ZIC2 RELA POLR2A ZNF341 IKZF1 TARDBP GC0XP153884 LCA10 GC0XP153883 GC0XP153881 L1CAM FAM3A GC0XM153869 ENSG00000284987
GH0XJ153875 Promoter 0.9 EPDnew 650.4 +10.3 10281 0.1 ZNF639 ZNF197 ZBTB11 KAT7 BACH1 ZNF398 REST ZNF2 ZNF395 ETS1 L1CAM GC0XP153881 GC0XP153883 GC0XM153869 ENSG00000284987
GH0XJ153876 Promoter 0.7 EPDnew 650.4 +10.1 10140 0.1 SCRT2 ZNF398 L1CAM GC0XP153881 GC0XP153883 GC0XM153869 ENSG00000284987
GH0XJ153900 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.2 -16.3 -16331 4.2 HDGF GLI4 TCF12 ZNF766 GLIS2 GATA2 ZNF143 FOS REST ATF4 AVPR2 HCFC1 SNORA70 DKC1 PLXNA3 TMEM187 SNORA56 EMD ENSG00000260081 SLC10A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around L1CAM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the L1CAM gene promoter:
  • AP-1
  • NRSF form 1
  • NRSF form 2
  • CREB
  • deltaCREB

Genomic Locations for L1CAM Gene

Genomic Locations for L1CAM Gene
chrX:153,861,514-153,886,174
(GRCh38/hg38)
Size:
24,661 bases
Orientation:
Minus strand
chrX:153,126,969-153,174,677
(GRCh37/hg19)
Size:
47,709 bases
Orientation:
Minus strand

Genomic View for L1CAM Gene

Genes around L1CAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
L1CAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for L1CAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for L1CAM Gene

Proteins for L1CAM Gene

  • Protein details for L1CAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32004-L1CAM_HUMAN
    Recommended name:
    Neural cell adhesion molecule L1
    Protein Accession:
    P32004
    Secondary Accessions:
    • A0AV65
    • A4ZYW4
    • B2RMU7
    • G3XAF4
    • Q8TA87

    Protein attributes for L1CAM Gene

    Size:
    1257 amino acids
    Molecular mass:
    140003 Da
    Quaternary structure:
    • Interacts with SHTN1; the interaction occurs in axonal growth cones.

    Alternative splice isoforms for L1CAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for L1CAM Gene

Post-translational modifications for L1CAM Gene

  • Glycosylation at Asn1105, Asn1071, Asn1030, Asn1022, Asn979, isoforms=2, 3876, isoforms=2, 3849, isoforms=2, 3825, Asn777, Asn726, Asn671, isoforms=2, 3588, Asn505, isoforms=2, 3490, isoforms=2, 3479, Asn433, isoforms=2, 3294, isoforms=2, 3247, Asn203, and Asn100
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for L1CAM

No data available for DME Specific Peptides for L1CAM Gene

Domains & Families for L1CAM Gene

Gene Families for L1CAM Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P32004

UniProtKB/Swiss-Prot:

L1CAM_HUMAN :
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Family:
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
genes like me logo Genes that share domains with L1CAM: view

Function for L1CAM Gene

Molecular function for L1CAM Gene

UniProtKB/Swiss-Prot Function:
Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.
GENATLAS Biochemistry:
cell adhesion molecule L1,expressed in the nervous system,Ig superfamily

Gene Ontology (GO) - Molecular Function for L1CAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18321067
GO:0019904 protein domain specific binding IDA 18321067
genes like me logo Genes that share ontologies with L1CAM: view
genes like me logo Genes that share phenotypes with L1CAM: view

Human Phenotype Ontology for L1CAM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for L1CAM Gene

MGI Knock Outs for L1CAM:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for L1CAM

Clone Products

  • Addgene plasmids for L1CAM

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for L1CAM Gene

Localization for L1CAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for L1CAM Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, growth cone. Cell projection, axon. Cell projection, dendrite. Note=Colocalized with SHTN1 in close apposition with actin filaments in filopodia and lamellipodia of axonalne growth cones of hippocampal neurons (By similarity). In neurons, detected predominantly in axons and cell body, weak localization to dendrites (PubMed:20621658). {ECO:0000250 UniProtKB:Q05695, ECO:0000269 PubMed:20621658}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for L1CAM gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 2
nucleus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for L1CAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion HDA 21423176
GO:0009986 cell surface IDA 22973895
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with L1CAM: view

Pathways & Interactions for L1CAM Gene

genes like me logo Genes that share pathways with L1CAM: view

Pathways by source for L1CAM Gene

2 KEGG pathways for L1CAM Gene
1 GeneGo (Thomson Reuters) pathway for L1CAM Gene
2 Cell Signaling Technology pathways for L1CAM Gene

Interacting Proteins for L1CAM Gene

Gene Ontology (GO) - Biological Process for L1CAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis TAS 19909241
GO:0007155 cell adhesion NAS 7920659
GO:0007160 cell-matrix adhesion IDA 22973895
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 1769655
genes like me logo Genes that share ontologies with L1CAM: view

No data available for SIGNOR curated interactions for L1CAM Gene

Drugs & Compounds for L1CAM Gene

(3) Drugs for L1CAM Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 2326

(1) Additional Compounds for L1CAM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with L1CAM: view

Transcripts for L1CAM Gene

mRNA/cDNA for L1CAM Gene

Unigene Clusters for L1CAM Gene

L1 cell adhesion molecule:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for L1CAM

Clone Products

  • Addgene plasmids for L1CAM

Alternative Splicing Database (ASD) splice patterns (SP) for L1CAM Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6: - - - -
SP7:
SP8:
SP9:
SP10:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29a · 29b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:

Relevant External Links for L1CAM Gene

GeneLoc Exon Structure for
L1CAM
ECgene alternative splicing isoforms for
L1CAM

Expression for L1CAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for L1CAM Gene

mRNA differential expression in normal tissues according to GTEx for L1CAM Gene

This gene is overexpressed in Brain - Cerebellum (x7.4) and Brain - Cerebellar Hemisphere (x6.9).

Protein differential expression in normal tissues from HIPED for L1CAM Gene

This gene is overexpressed in Fetal Brain (22.8), Amniocyte (18.3), and Frontal cortex (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for L1CAM Gene



NURSA nuclear receptor signaling pathways regulating expression of L1CAM Gene:

L1CAM

SOURCE GeneReport for Unigene cluster for L1CAM Gene:

Hs.522818

Evidence on tissue expression from TISSUES for L1CAM Gene

  • Nervous system(5)
  • Pancreas(4.2)
  • Liver(4.1)
  • Bone marrow(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for L1CAM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • face
  • head
  • meninges
  • skull
Abdomen:
  • intestine
  • large intestine
Pelvis:
  • pelvis
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with L1CAM: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for L1CAM Gene

Orthologs for L1CAM Gene

This gene was present in the common ancestor of animals.

Orthologs for L1CAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia L1CAM 34 33
  • 99.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia L1CAM 34 33
  • 89.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia L1CAM 34 33
  • 87.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia L1cam 16 34 33
  • 85.8 (n)
rat
(Rattus norvegicus)
Mammalia L1cam 33
  • 85.33 (n)
oppossum
(Monodelphis domestica)
Mammalia L1CAM 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves L1CAM 33
  • 58.39 (n)
lizard
(Anolis carolinensis)
Reptilia L1CAM 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia l1cam 33
  • 56.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34215 33
zebrafish
(Danio rerio)
Actinopterygii nadl1.2 34 33
  • 52.73 (n)
OneToMany
nadl1.1 34 33
  • 37 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nrg 35
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea lad-1 35
  • 28 (a)
Y54G2A.25 35
  • 26 (a)
Species where no ortholog for L1CAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for L1CAM Gene

ENSEMBL:
Gene Tree for L1CAM (if available)
TreeFam:
Gene Tree for L1CAM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for L1CAM: view image

Paralogs for L1CAM Gene

Paralogs for L1CAM Gene

(20) SIMAP similar genes for L1CAM Gene using alignment to 18 proteins:

  • L1CAM_HUMAN
  • E7EMY4_HUMAN
  • E7EPI4_HUMAN
  • E7EVM4_HUMAN
  • E9PHJ4_HUMAN
  • F5H025_HUMAN
  • F5H1H0_HUMAN
  • H0Y5C3_HUMAN
  • H3BLW5_HUMAN
  • Q7Z2F9_HUMAN
  • Q7Z2H2_HUMAN
  • Q7Z2I3_HUMAN
  • Q7Z2J0_HUMAN
  • Q7Z2J6_HUMAN
  • Q7Z2J8_HUMAN
  • Q7Z2J9_HUMAN
  • Q7Z3Z9_HUMAN
  • Q86SE4_HUMAN
genes like me logo Genes that share paralogs with L1CAM: view

Variants for L1CAM Gene

Sequence variations from dbSNP and Humsavar for L1CAM Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1042512 benign, not specified, Spastic paraplegia 153,870,192(-) G/A coding_sequence_variant, synonymous_variant
rs112841948 benign, not specified, Spastic paraplegia 153,868,962(-) G/A/C intron_variant
rs137852518 pathogenic, X-linked hydrocephalus syndrome, Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] 153,870,403(-) C/T coding_sequence_variant, missense_variant
rs137852519 pathogenic, Spastic paraplegia 1, Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350] 153,868,034(-) C/T coding_sequence_variant, missense_variant
rs137852520 pathogenic, X-linked hydrocephalus syndrome, not provided, Hydrocephalus due to aqueductal stenosis, Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000] 153,868,866(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for L1CAM Gene

Variant ID Type Subtype PubMed ID
esv1000302 CNV gain 20482838
esv33199 CNV gain+loss 17666407
nsv469867 CNV loss 16826518
nsv7159 CNV deletion 18451855

Variation tolerance for L1CAM Gene

Residual Variation Intolerance Score: 1.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for L1CAM Gene

Human Gene Mutation Database (HGMD)
L1CAM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
L1CAM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for L1CAM Gene

Disorders for L1CAM Gene

MalaCards: The human disease database

(19) MalaCards diseases for L1CAM Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
masa syndrome
  • mental retardation, aphasia, shuffling gait, and adducted thumbs
corpus callosum, partial agenesis of, x-linked
  • corpus callosum, partial agenesis of
hydrocephalus with stenosis of the aqueduct of sylvius
  • bickers-adams syndrome
spastic paraplegia 1
  • masa syndrome
x-linked complicated spastic paraplegia type 1
  • masa syndrome
- elite association - COSMIC cancer census association via MalaCards
Search L1CAM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

L1CAM_HUMAN
  • Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]: Hydrocephalus is a condition in which abnormal accumulation of cerebrospinal fluid in the brain causes increased intracranial pressure inside the skull. This is usually due to blockage of cerebrospinal fluid outflow in the brain ventricles or in the subarachnoid space at the base of the brain. In children is typically characterized by enlargement of the head, prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by mental retardation and enlarged brain ventricles. {ECO:0000269 PubMed:10797421, ECO:0000269 PubMed:11857550, ECO:0000269 PubMed:12435569, ECO:0000269 PubMed:12514225, ECO:0000269 PubMed:19846429, ECO:0000269 PubMed:20621658, ECO:0000269 PubMed:22344793, ECO:0000269 PubMed:22973895, ECO:0000269 PubMed:24155914, ECO:0000269 PubMed:7562969, ECO:0000269 PubMed:7762552, ECO:0000269 PubMed:7881431, ECO:0000269 PubMed:7920659, ECO:0000269 PubMed:8401576, ECO:0000269 PubMed:8556302, ECO:0000269 PubMed:8929944, ECO:0000269 PubMed:9118141, ECO:0000269 PubMed:9195224, ECO:0000269 PubMed:9268105, ECO:0000269 PubMed:9521424, ECO:0000269 PubMed:9744477, ECO:0000269 PubMed:9832035}. Note=The disease is caused by mutations affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease (PubMed:22344793). {ECO:0000269 PubMed:22344793}.
  • Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA) [MIM:303350]: An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. {ECO:0000269 PubMed:10797421, ECO:0000269 PubMed:10805190, ECO:0000269 PubMed:11857550, ECO:0000269 PubMed:16816908, ECO:0000269 PubMed:19846429, ECO:0000269 PubMed:22344793, ECO:0000269 PubMed:22973895, ECO:0000269 PubMed:24155914, ECO:0000269 PubMed:26891472, ECO:0000269 PubMed:7562969, ECO:0000269 PubMed:7762552, ECO:0000269 PubMed:7881431, ECO:0000269 PubMed:7920659, ECO:0000269 PubMed:7920660, ECO:0000269 PubMed:8556302, ECO:0000269 PubMed:9268105, ECO:0000269 PubMed:9300653, ECO:0000269 PubMed:9452110, ECO:0000269 PubMed:9521424, ECO:0000269 PubMed:9744477, ECO:0000269 PubMed:9832035}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis. {ECO:0000269 PubMed:11857550}.
  • Agenesis of the corpus callosum, X-linked, partial (ACCPX) [MIM:304100]: A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, mental retardation, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. {ECO:0000269 PubMed:16650080}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in L1CAM are associated with a wide phenotypic spectrum which varies from severe hydrocephalus and prenatal death (HSAS) to a milder phenotype (MASA). These variations may even occur within the same family. Due to the overlap of phenotypes between HSAS and MASA, many authors use the general concept of L1 syndrome which covers both ends of the spectrum. {ECO:0000269 PubMed:19846429, ECO:0000269 PubMed:22222883, ECO:0000269 PubMed:26891472}.

Additional Disease Information for L1CAM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with L1CAM: view

No data available for Genatlas for L1CAM Gene

Publications for L1CAM Gene

  1. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PMID: 17420921) DeLuca GC … Ebers GC (Journal of neurology 2007) 3 22 44 58
  2. A novel missense mutation in the L1CAM gene in a boy with L1 disease. (PMID: 16816908) Simonati A … Mostacciuolo ML (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2006) 3 4 22 58
  3. Expanding the phenotypic spectrum of L1CAM-associated disease. (PMID: 16650080) Basel-Vanagaite L … Schwartz CE (Clinical genetics 2006) 3 4 22 58
  4. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? (PMID: 11857550) Parisi MA … Leppig KA (American journal of medical genetics 2002) 3 4 22 58
  5. X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. (PMID: 12435569) Sztriha L … Berg B (Pediatric neurology 2002) 3 4 22 58

Products for L1CAM Gene

  • Addgene plasmids for L1CAM

Sources for L1CAM Gene

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