L1CAM

Summary

L1CAM (L1 cell adhesion molecule, HGNC:6470) is a protein-coding gene on chromosome Xq28, encoding Neural cell adhesion molecule L1 (P32004). Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. It is haploinsufficient (ClinGen: sufficient evidence).

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.

Source: NCBI Gene 3897 — RefSeq curated summary.

At a glance

• Gene–disease (curated): L1 syndrome (Definitive, ClinGen) — +4 more curated relationships
• Clinical variants (ClinVar): 1,545 total — 126 pathogenic, 71 likely-pathogenic
• Phenotypes (HPO): 57
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001278116

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6470
Approved symbol	L1CAM
Name	L1 cell adhesion molecule
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	CD171, NCAM-L1, CAML1
Ensembl gene	ENSG00000198910
Ensembl biotype	protein_coding
OMIM	308840
Entrez	3897

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 14 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000361699, ENST00000361981, ENST00000370055, ENST00000370058, ENST00000370060, ENST00000407935, ENST00000420165, ENST00000439496, ENST00000455590, ENST00000458029, ENST00000460553, ENST00000474853, ENST00000484652, ENST00000491983, ENST00000496122, ENST00000616195, ENST00000891164, ENST00000891165, ENST00000912311, ENST00000912312

RefSeq mRNA: 4 — MANE Select: NM_001278116 NM_000425, NM_001143963, NM_001278116, NM_024003

CCDS: CCDS14733, CCDS14734, CCDS48192

Canonical transcript exons

ENST00000370060 — 29 exons

Exon	Start	End
ENSE00001434628	153868302	153868458
ENSE00001434939	153864322	153864477
ENSE00001435014	153868841	153868952
ENSE00001435150	153869520	153869663
ENSE00001435355	153863883	153864017
ENSE00001435510	153864821	153864994
ENSE00001435724	153864585	153864704
ENSE00001435726	153870790	153870960
ENSE00001435915	153869803	153869934
ENSE00001435943	153870056	153870240
ENSE00001435979	153866649	153866871
ENSE00001436064	153867054	153867124
ENSE00001436163	153867356	153867553
ENSE00001436402	153865704	153865819
ENSE00001436528	153871057	153871179
ENSE00001436728	153863477	153863549
ENSE00001546790	153886065	153886173
ENSE00002697951	153870388	153870499
ENSE00003507494	153867800	153867910
ENSE00003509266	153867998	153868122
ENSE00003544774	153865088	153865210
ENSE00003577699	153875761	153875944
ENSE00003601238	153868561	153868727
ENSE00003617569	153873228	153873242
ENSE00003664140	153865299	153865500
ENSE00003680685	153872592	153872697
ENSE00003681390	153863368	153863379
ENSE00003790765	153872152	153872354
ENSE00003895433	153861516	153862894

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 98.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.6818 / max 502.2057, expressed in 935 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200921	17.4865	926
200919	1.5250	172
200917	0.3054	162
200918	0.1580	80
200920	0.1405	54
200916	0.0665	23

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.91	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.87	gold quality
cerebellar hemisphere	UBERON:0002245	98.79	gold quality
cerebellar cortex	UBERON:0002129	98.78	gold quality
cerebellum	UBERON:0002037	98.61	gold quality
dorsal root ganglion	UBERON:0000044	98.12	gold quality
trigeminal ganglion	UBERON:0001675	97.49	gold quality
cerebellar vermis	UBERON:0004720	97.30	gold quality
sural nerve	UBERON:0015488	96.96	gold quality
paraflocculus	UBERON:0005351	96.31	gold quality
olfactory bulb	UBERON:0002264	96.11	gold quality
tibial nerve	UBERON:0001323	95.88	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.75	gold quality
right frontal lobe	UBERON:0002810	95.72	gold quality
superior frontal gyrus	UBERON:0002661	95.48	gold quality
endometrium epithelium	UBERON:0004811	95.39	gold quality
frontal cortex	UBERON:0001870	95.34	gold quality
ganglionic eminence	UBERON:0004023	95.27	gold quality
prefrontal cortex	UBERON:0000451	95.21	gold quality
entorhinal cortex	UBERON:0002728	95.13	gold quality
primary visual cortex	UBERON:0002436	94.89	gold quality
parietal lobe	UBERON:0001872	94.81	gold quality
postcentral gyrus	UBERON:0002581	94.74	gold quality
occipital lobe	UBERON:0002021	94.47	gold quality
neocortex	UBERON:0001950	94.45	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.22	gold quality
frontal pole	UBERON:0002795	93.93	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.90	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.54	gold quality
orbitofrontal cortex	UBERON:0004167	93.05	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-11	yes	29.84
E-GEOD-93593	yes	14.36
E-GEOD-84465	yes	7.08
E-ANND-3	no	2.85

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, ARNT, BARX2, CTNNB1, DNMT1, EWSR1, FLI1, HNF4A, HOXA1, HR, NFIA, NFIC, NFKB, NME1, PAX2, PAX6, PAX8, REST, SNAI2, SOX10, SP1, TCF3, TFAP2A

miRNA regulators (miRDB)

87 targeting L1CAM, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-149-3P	99.72	68.22	3963

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• genetic and clinical aspects of X-linked hydrocephalus (L1 disease) (PMID:11438988)
• May be a modifier of a gene associated with Hirschsprung disease. (PMID:11857550)
• Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? (PMID:11897831)
• A novel missense mutation in the L1CAM gene is identified in a boy with X-linked hydrocephalus who had multiple small gyri, hypoplasia of the white matter, agenesis of the corpus callosum, and lack of cleavage of the thalami. (PMID:12435569)
• L1CAM might contribute to melanoma progression by promoting cell adhesion and migration. (PMID:12490317)
• X-linked hydrocephalus is a variable condition caused by mutations in the gene encoding for L1CAM. This gene is located at Xq28. (PMID:12725590)
• This review focuses on the L1CAM extracellular region and how recent work has clarified important aspects of its structure and function; new insights are provided for L1CAM binding to extracellular molecules, and how L1CAM initially folds. (PMID:12957823)
• Data show that L1-cell adhesion molecule interactions with ankyrinB (but not with ankyrinG) are involved in the initial formation of neurites. (PMID:14657231)
• L1-type CAMs are able to promote the adhesion-dependent activation of EGF receptor signaling in vitro and in vivo (PMID:14718570)
• This study provides a novel translational mechanism to account for the association between L1 expression and motile processes involved in metastasis and development. (PMID:15128735)
• L1CAM may be a modifying factor in the development of Hirschsprung’s disease (PMID:15148591)
• The sixth Ig-like domain of L1 (L1Ig6) demonstrates angiogenic potential involving ligation and activation of alpha(v)beta3. (PMID:15609076)
• L1 expression conferred increased cell motility, growth in low serum, transformation and tumorigenesis. (PMID:15716380)
• Levels of CAM-L1 were increased in the prefrontal cortex of the major depression. (PMID:15820228)
• RanBPM is an adaptor protein that links L1 to the extracellular signal-regulated kinase/MAPK pathway. (PMID:16000162)
• The cleavage of the ectodomains of L1 and CD44 is initiated in an endosomal compartment that is subsequently released in the form of exosomes. (PMID:16229685)
• Data show that L1 is highly expressed in gastrointestinal stromal tumors but not in leiomyoma and desmoid-type fibromatosis being important differential diagnoses. (PMID:16400320)
• L1CAM has a function in synapse formation by organizing microtubules in the synaptic terminal. (PMID:16401420)
• L1 cell adhesion molecule plays a critical role in melanoma invasion and progression and offers therapeutic potential in combination with conventional anticancer agents. (PMID:16506207)
• High L1 expression is associated with colorectal cancer progression (PMID:17211730)
• A LiCAM mutation was presented in a boy with hydrocephalus and duplex kidneys. (PMID:17294222)
• L1CAM loss-of-function mutations cause a severe form of L1 syndrome. (PMID:17328266)
• ADAM10 overexpression in colon cancer cells displaying endogenous L1-CAM enhanced L1-CAM cleavage and induced liver metastasis, and ADAM10 also enhanced metastasis in colon cancer cells stably transfected with L1-CAM. (PMID:17699774)
• a significant association of L1 expression and presence of disseminated tumor cells colorectal tumors (PMID:17873897)
• Expression of L1-CAM augments cell motility, invasiveness and tumor growth, causes sustained Erk kinase activation and augments transcriptional activity of proinvasive genes. (PMID:17952127)
• A soluble form of human L1 can be detected in the urine of patients with acute tubular necrosis and this may be a marker of distal nephron injury. (PMID:18059459)
• Alpha v beta 5, alpha v beta 5 and their ligands Del-1 and L1 play an important role in the process of tumor cells moving from the original place. (PMID:18090124)
• We propose that L1CAM could promote endometriosis development by increasing enervation and aggravation. L1CAM expression is higher in atypical endometriosis compared with normal endometriosis. (PMID:18332088)
• L1 (CAM) expression represents a novel diagnostic marker in serous ovarian neoplasms that show characteristics of tumor progressio; immunoreactivity correlated significantly with stage and grade (PMID:18386459)
• ALCAM coordinates tissue growth and cell migration in a process involvnig L1CAM (PMID:18483249)
• Importance of the RGD site in L1 for human tumors; nuclear signaling of L1 is dependent on integrins. (PMID:18555990)
• L1CAM is required for maintaining the growth and survival of CD133(+) glioma cells both in vitro and in vivo, and L1CAM may represent a cancer stem cell-specific therapeutic target for improving the treatment of malignant gliomas and other brain tumors (PMID:18676824)
• domains Ig1 to Ig4 are necessary and sufficient for L1 homophilic binding in trans, and that the rest of the molecule does not contribute to the affinity (PMID:18701456)
• L1-CAM has a role in metastasis in colon cancer cells [review] (PMID:18847309)
• a functional role of L1CAM expression on tumor endothelium that could favor metastasis and angiogenesis during tumor progression. (PMID:18931829)
• L1 expression indicates more mature stages of neuroblastoma and is associated with less aggressive tumor cell behavior.. (PMID:18972120)
• Our report also helps define the critical region with exclusion of L1CAM in the X-linked mental retardation phenotype. (PMID:19018795)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• Results establish for the first time that regulated proteolytic processing by ADAM10 and PS/gamma-secretase is essential for the nuclear signalling of L1 in human carcinoma cell lines. (PMID:19260824)
• These results implicate L1 in the regulation of dendritic cells (DC) trafficking and shed light on novel mechanisms underlying transendothelial migration of DCs. (PMID:19273627)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	l1cama	ENSDARG00000007149
mus_musculus	L1cam	ENSMUSG00000031391
rattus_norvegicus	L1cam	ENSRNOG00000061230

Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323)

Protein

Protein identifiers

Neural cell adhesion molecule L1 — P32004 (reviewed: P32004)

All UniProt accessions (7): P32004, E7EMY4, E7EPI4, E7EVM4, E9PHJ4, H0Y5C3, H3BLW5

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with SHTN1; the interaction occurs in axonal growth cones. Interacts with isoform 2 of BSG.

Subcellular location. Cell membrane. Cell projection. Growth cone. Axon. Dendrite.

Disease relevance. Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000] An X-linked recessive form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYCX is the most common inherited form and occurs in approximately 1/30000 male births. The primary diagnostic criteria of intellectual disability and enlarged cerebral ventricles are often accompanied by spastic paraparesis and adducted thumbs and, occasionally, visual defects or seizures. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder. The disease is caused by variants 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. MASA 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, intellectual disability, 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. The disease is caused by variants affecting the gene represented in this entry. Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis. 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, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. The disease is caused by variants affecting the gene represented in this entry. Defects in L1CAM are associated with a wide phenotypic spectrum which varies from severe hydrocephalus and prenatal death (HYCX) to a milder phenotype (MASA). These variations may even occur within the same family. Due to the overlap of phenotypes between HYCX and MASA, many authors use the general concept of L1 syndrome which covers both ends of the spectrum.

Similarity. Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.

Isoforms (3)

UniProt ID	Names	Canonical?
P32004-1	1	yes
P32004-2	2
P32004-3	3

RefSeq proteins (4): NP_000416, NP_001137435, NP_001265045, NP_076493 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR026966	Neurofascin/L1/NrCAM_C	Domain
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR051170	Neural/epithelial_adhesion	Family

Pfam: PF00041, PF07679, PF13882, PF13927

UniProt features (178 total): sequence variant 88, glycosylation site 20, strand 14, sequence conflict 12, domain 11, modified residue 9, disulfide bond 6, region of interest 3, compositionally biased region 3, helix 2, topological domain 2, splice variant 2, signal peptide 1, chain 1, mutagenesis site 1, turn 1, short sequence motif 1, transmembrane region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8AFO	X-RAY DIFFRACTION	1.99
8AFP	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P32004-F1	78.82	0.39

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (9): 1177, 1172, 1163, 1178, 1181, 1194, 1243, 1244, 1248

Disulfide bonds (6): 57–114, 158–209, 264–312, 354–404, 448–497, 539–591

Glycosylation sites (20): 100, 203, 247, 294, 433, 479, 490, 505, 588, 671, 726, 777, 825, 849, 876, 979, 1022, 1030, 1071, 1105

Mutagenesis-validated functional residues (1):

Position	Phenotype
1147–1153	loss of axon guidance, when assayed in a heterologous system, but normal synapse formation.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-210991	Basigin interactions
R-HSA-373760	L1CAM interactions
R-HSA-437239	Recycling pathway of L1
R-HSA-445095	Interaction between L1 and Ankyrins
R-HSA-445144	Signal transduction by L1
R-HSA-109582	Hemostasis
R-HSA-1266738	Developmental Biology
R-HSA-202733	Cell surface interactions at the vascular wall
R-HSA-422475	Axon guidance
R-HSA-9675108	Nervous system development

MSigDB gene sets: 457 (showing top): RNGTGGGC_UNKNOWN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HARRIS_HYPOXIA, GOBP_NEURON_PROJECTION_EXTENSION, SASAI_TARGETS_OF_CXCR6_AND_PTCH1_UP, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GCANCTGNY_MYOD_Q6, GOBP_GROWTH, GOCC_CELL_SURFACE, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, CAGCTG_AP4_Q5

GO Biological Process (12): chemotaxis (GO:0006935), cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), cell-matrix adhesion (GO:0007160), nervous system development (GO:0007399), axon guidance (GO:0007411), cell migration (GO:0016477), neuron projection development (GO:0031175), positive regulation of axon extension (GO:0045773), synapse organization (GO:0050808), axon development (GO:0061564), cell differentiation (GO:0030154)

GO Molecular Function (3): axon guidance receptor activity (GO:0008046), protein domain specific binding (GO:0019904), protein binding (GO:0005515)

GO Cellular Component (11): plasma membrane (GO:0005886), focal adhesion (GO:0005925), cell surface (GO:0009986), axon (GO:0030424), dendrite (GO:0030425), extracellular matrix (GO:0031012), neuronal cell body (GO:0043025), axonal growth cone (GO:0044295), membrane (GO:0016020), growth cone (GO:0030426), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
L1CAM interactions	3
Cell surface interactions at the vascular wall	1
Axon guidance	1
Hemostasis	1
Nervous system development	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
neuron projection	2
response to chemical	1
taxis	1
cellular process	1
cell-cell adhesion	1
cell-substrate adhesion	1
system development	1
axonogenesis	1
neuron projection guidance	1
cell motility	1
neuron development	1
plasma membrane bounded cell projection organization	1
positive regulation of cell growth	1
regulation of axon extension	1
positive regulation of developmental growth	1
axon extension	1
positive regulation of axonogenesis	1
cell junction organization	1
neuron projection development	1
cellular developmental process	1
transmembrane signaling receptor activity	1
axon guidance	1
protein binding	1
binding	1
membrane	1
cell periphery	1
cell-substrate junction	1
dendritic tree	1
external encapsulating structure	1
somatodendritic compartment	1
cell body	1
growth cone	1
site of polarized growth	1
distal axon	1

Protein interactions and networks

STRING

2802 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
L1CAM	NRP1	O14786	985
L1CAM	ANK2	Q01484	980
L1CAM	ANK1	P16157	953
L1CAM	ANK3	Q12955	946
L1CAM	CD24	P25063	849
L1CAM	ITGB1	P05556	819
L1CAM	RENBP	P51606	814
L1CAM	SHTN1	A0MZ66	810
L1CAM	NCAM1	P13591	807
L1CAM	ALCAM	Q13740	799
L1CAM	SEMA3A	Q14563	780
L1CAM	EZR	P15311	768
L1CAM	TMEM187	Q14656	757
L1CAM	AVPR2	P30518	745
L1CAM	NAA10	P41227	741

IntAct

56 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
CHL1	L1CAM	psi-mi:“MI:0915”(physical association)	0.680
CHL1	L1CAM	psi-mi:“MI:0407”(direct interaction)	0.680
	L1CAM	psi-mi:“MI:0403”(colocalization)	0.560
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
GPIHBP1	ADAM10	psi-mi:“MI:0914”(association)	0.530
HSPA12B	EEF2K	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
	TFRC	psi-mi:“MI:0915”(physical association)	0.520
L1CAM	L1CAM	psi-mi:“MI:0407”(direct interaction)	0.440
L1CAM	aerA	psi-mi:“MI:0407”(direct interaction)	0.440
	RAP1BL	psi-mi:“MI:0915”(physical association)	0.400
Caskin1	L1CAM	psi-mi:“MI:0915”(physical association)	0.370
PRNP	WDR91	psi-mi:“MI:0914”(association)	0.350
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
	VPS37C	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ANK2	IGKV2-40	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
CACNA1C	IGLL5	psi-mi:“MI:0914”(association)	0.350

BioGRID (79): L1CAM (Affinity Capture-MS), L1CAM (Affinity Capture-MS), L1CAM (Affinity Capture-MS), L1CAM (Affinity Capture-MS), L1CAM (Affinity Capture-MS), Ank3 (Co-localization), EGFR (Affinity Capture-Western), ERBB2 (Affinity Capture-Western), ERBB3 (Affinity Capture-Western), ERBB3 (Co-localization), FGFR1 (Co-localization), FGFR1 (Reconstituted Complex), L1CAM (Affinity Capture-MS), L1CAM (Affinity Capture-MS), L1CAM (Affinity Capture-MS)

ESM2 similar proteins: A1A5Y0, A1KZ92, A2AJ76, B0S5N4, D3YXG0, D3ZPX4, F1MMS9, O00187, O55005, O60500, O75093, O88279, O88280, P11627, P17852, P26006, P32004, P51805, P57110, P59511, P70208, P85171, Q05695, Q0PMG2, Q13219, Q3UH53, Q4KMG0, Q62470, Q62918, Q7Z5N4, Q80TR4, Q8AV58, Q8AXZ4, Q8CIY2, Q8HZK2, Q8HZK3, Q8NDA2, Q8R4K8, Q8TE57, Q91WP0

Diamond homologs: A0N0X6, A2AJ76, A2CG49, A4IGL7, A4IIW9, B3NS99, B4GBH0, B4HNW4, B4KPU0, B4MR28, B4P5Q9, B4QC63, G5EBF1, O75325, O95428, P0C6S8, P11627, P12960, P22063, P28685, P32004, P97924, Q02246, Q07409, Q09024, Q12860, Q290N5, Q32Q07, Q3UQ28, Q3URE9, Q3V1M1, Q5R482, Q61330, Q61809, Q62682, Q62845, Q63198, Q66HV9, Q69Z26, Q6AWJ9

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
NME1	“down-regulates quantity by repression”	L1CAM	“transcriptional regulation”
PRKCA	“down-regulates activity”	L1CAM	phosphorylation
RPS6KA1	“up-regulates activity”	L1CAM	phosphorylation
RPS6KA2	“up-regulates activity”	L1CAM	phosphorylation
CSNK2A1	unknown	L1CAM	phosphorylation
RPS6K	“up-regulates activity”	L1CAM	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Axon guidance	8	7.7×	2e-03
Nervous system development	8	7.3×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1545 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	126
Likely pathogenic	71
Uncertain significance	342
Likely benign	546
Benign	194

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
10000	NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter)	Pathogenic
1072630	NM_001278116.2(L1CAM):c.2654T>A (p.Leu885Ter)	Pathogenic
1074836	NM_001278116.2(L1CAM):c.2822C>T (p.Pro941Leu)	Pathogenic
1074837	NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter)	Pathogenic
1075508	NC_000023.10:g.(?153129318)(153131294_?)del	Pathogenic
1195984	NM_001278116.2(L1CAM):c.2872+1G>C	Pathogenic
1204898	NM_001278116.2(L1CAM):c.1828+1G>A	Pathogenic
1339568	NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter)	Pathogenic
1343116	NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter)	Pathogenic
1344539	NM_001278116.2(L1CAM):c.3046+1G>A	Pathogenic
1359228	NM_001278116.2(L1CAM):c.2813G>A (p.Trp938Ter)	Pathogenic
1359293	NM_001278116.2(L1CAM):c.616del (p.Asp206fs)	Pathogenic
1379028	NM_001278116.2(L1CAM):c.791G>T (p.Cys264Phe)	Pathogenic
1429299	NM_001278116.2(L1CAM):c.644_648dup (p.Arg217fs)	Pathogenic
1676774	NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)	Pathogenic
1805138	NM_001278116.2(L1CAM):c.1703+5G>A	Pathogenic
2022036	NM_001278116.2(L1CAM):c.1603del (p.Arg534_Val535insTer)	Pathogenic
2032334	NM_001278116.2(L1CAM):c.3368del (p.Phe1123fs)	Pathogenic
211339	NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)	Pathogenic
211340	NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys)	Pathogenic
2138775	NM_001278116.2(L1CAM):c.3453_3456del (p.Lys1150_Tyr1151insTer)	Pathogenic
2138776	NM_001278116.2(L1CAM):c.2539G>T (p.Gly847Ter)	Pathogenic
2138778	NM_001278116.2(L1CAM):c.550C>T (p.Arg184Trp)	Pathogenic
2138779	NM_001278116.2(L1CAM):c.78T>A (p.Tyr26Ter)	Pathogenic
216069	NM_001278116.2(L1CAM):c.1939A>T (p.Lys647Ter)	Pathogenic
2231064	NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter)	Pathogenic
235709	NM_001278116.2(L1CAM):c.992-2A>G	Pathogenic
2423048	NC_000023.10:g.(?153135069)(153135421_?)del	Pathogenic
253610	GRCh37/hg19 Xq28(chrX:153126942-153141972)x0	Pathogenic
253651	GRCh37/hg19 Xq28(chrX:153126942-153141190)x0	Pathogenic

SpliceAI

4723 predictions. Top by Δscore:

Variant	Effect	Δscore
X:153862890:TGTCA:T	acceptor_gain	1.0000
X:153862891:GTCA:G	acceptor_gain	1.0000
X:153862892:TCA:T	acceptor_gain	1.0000
X:153862893:CA:C	acceptor_gain	1.0000
X:153862893:CAC:C	acceptor_gain	1.0000
X:153862894:AC:A	acceptor_loss	1.0000
X:153862895:C:CC	acceptor_gain	1.0000
X:153862898:C:CT	acceptor_gain	1.0000
X:153863471:GCTCA:G	donor_loss	1.0000
X:153863472:CTCAC:C	donor_loss	1.0000
X:153863473:TCACC:T	donor_loss	1.0000
X:153863475:ACC:A	donor_loss	1.0000
X:153863476:C:G	donor_loss	1.0000
X:153863545:CTTCA:C	acceptor_gain	1.0000
X:153863547:TCA:T	acceptor_gain	1.0000
X:153863548:CA:C	acceptor_gain	1.0000
X:153863548:CAC:C	acceptor_gain	1.0000
X:153863550:C:CA	acceptor_loss	1.0000
X:153863550:C:CC	acceptor_gain	1.0000
X:153864316:CCTCA:C	donor_loss	1.0000
X:153864317:CTCA:C	donor_loss	1.0000
X:153864318:TCA:T	donor_loss	1.0000
X:153864319:CACC:C	donor_loss	1.0000
X:153864320:A:AC	donor_gain	1.0000
X:153864321:C:CC	donor_gain	1.0000
X:153864446:C:CC	acceptor_gain	1.0000
X:153864473:CTCTT:C	acceptor_gain	1.0000
X:153864475:CTT:C	acceptor_gain	1.0000
X:153864476:TT:T	acceptor_gain	1.0000
X:153864478:C:CC	acceptor_gain	1.0000

AlphaMissense

8275 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:153867414:G:C	N693K	1.000
X:153867414:G:T	N693K	1.000
X:153868099:A:G	L576P	1.000
X:153868346:C:A	W553C	1.000
X:153868346:C:G	W553C	1.000
X:153868348:A:G	W553R	1.000
X:153868348:A:T	W553R	1.000
X:153868727:C:A	W460C	1.000
X:153868727:C:G	W460C	1.000
X:153868842:A:G	W460R	1.000
X:153868842:A:T	W460R	1.000
X:153869563:G:C	N408K	1.000
X:153869563:G:T	N408K	1.000
X:153870219:C:A	W276C	1.000
X:153870219:C:G	W276C	1.000
X:153870221:A:G	W276R	1.000
X:153870221:A:T	W276R	1.000
X:153871067:C:A	W171C	1.000
X:153871067:C:G	W171C	1.000
X:153872345:C:A	W69C	1.000
X:153872345:C:G	W69C	1.000
X:153864895:A:G	F991S	0.999
X:153865146:C:A	W938C	0.999
X:153865146:C:G	W938C	0.999
X:153865148:A:G	W938R	0.999
X:153865148:A:T	W938R	0.999
X:153865351:G:C	N899K	0.999
X:153865351:G:T	N899K	0.999
X:153865752:C:A	W833C	0.999
X:153865752:C:G	W833C	0.999

dbSNP variants (sampled 300 via entrez): RS1000379362 (X:153884867 G>A), RS1000422182 (X:153863804 C>G,T), RS1000535072 (X:153872511 T>G), RS1000687679 (X:153879894 A>T), RS1000826647 (X:153879690 C>T), RS1001292662 (X:153887650 C>A,T), RS1001354410 (X:153876197 T>C), RS1001663543 (X:153883384 G>A), RS1002303138 (X:153870574 C>A), RS1002969589 (X:153866525 G>T), RS1003036135 (X:153874387 A>G), RS1003192942 (X:153882162 G>A,T), RS1003246109 (X:153866854 G>T), RS1003736481 (X:153881838 C>A), RS1003886386 (X:153882202 G>T)

Disease associations

OMIM: gene MIM:308840 | disease phenotypes: MIM:213000, MIM:303350, MIM:304100, MIM:307000, MIM:618138, MIM:300673, MIM:142623

GenCC curated gene-disease

Disease	Classification	Inheritance
L1 syndrome	Definitive	X-linked
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	Definitive	X-linked
MASA syndrome	Strong	X-linked
X-linked complicated corpus callosum dysgenesis	Strong	X-linked
X-linked complicated spastic paraplegia type 1	Supportive	X-linked

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
L1 syndrome	Definitive	XL

Mondo (15): isolated cerebellar hypoplasia/agenesis (MONDO:0008939), MASA syndrome (MONDO:0010559), X-linked complicated corpus callosum dysgenesis (MONDO:0010569), X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (MONDO:0010611), L1 syndrome (MONDO:0017140), hereditary spastic paraplegia (MONDO:0019064), cerebellar ataxia (MONDO:0000437), peripheral neuropathy (MONDO:0005244), muscular dystrophy, limb-girdle, autosomal recessive 23 (MONDO:0029136), intellectual disability (MONDO:0001071), severe neonatal-onset encephalopathy with microcephaly (MONDO:0010397), Hirschsprung disease (MONDO:0018309), hereditary ataxia (MONDO:0100309), hydrops fetalis (MONDO:0015193), X-linked complicated spastic paraplegia type 1 (MONDO:0017630)

Orphanet (14): Isolated cerebellar agenesis (Orphanet:1398), X-linked complicated corpus callosum dysgenesis (Orphanet:1497), Hydrocephalus with stenosis of the aqueduct of Sylvius (Orphanet:2182), Cerebellar hypoplasia-tapetoretinal degeneration syndrome (Orphanet:2246), MASA syndrome (Orphanet:2466), L1 syndrome (Orphanet:275543), Hereditary spastic paraplegia (Orphanet:685), Rare ataxia (Orphanet:102002), Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 (Orphanet:565837), MECP2-related severe neonatal encephalopathy (Orphanet:209370), Hirschsprung disease (Orphanet:388), Hereditary ataxia (Orphanet:183518), Hydrops fetalis (Orphanet:1041), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

57 total (30 of 57 shown, HPO-id order):

HPO	Term
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000486	Strabismus
HP:0000639	Nystagmus
HP:0000750	Delayed speech and language development
HP:0001181	Adducted thumb
HP:0001188	Hand clenching
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001256	Mild intellectual disability
HP:0001257	Spasticity
HP:0001258	Spastic paraplegia
HP:0001263	Global developmental delay
HP:0001268	Mental deterioration
HP:0001274	Agenesis of corpus callosum
HP:0001288	Gait disturbance
HP:0001321	Cerebellar hypoplasia
HP:0001324	Muscle weakness
HP:0001331	Absent septum pellucidum
HP:0001338	Partial agenesis of the corpus callosum
HP:0001347	Hyperreflexia
HP:0001360	Holoprosencephaly
HP:0001387	Joint stiffness
HP:0001419	X-linked recessive inheritance
HP:0001761	Pes cavus
HP:0001762	Talipes equinovarus

GWAS associations

0 associations (top):

MeSH disease descriptors (10)

Descriptor	Name	Tree numbers
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439
D015160	Hydrops Fetalis	C12.050.703.277.060.480; C15.378.295.480; C15.378.420.826.100.350; C16.300.060.480; C16.320.365.826.100.350; C20.306.480; C23.888.277.395
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820
C562568	Cerebellar Hypoplasia (supp.)
C564115	Corpus Callosum, Partial Agenesis of, X-Linked (supp.)
C566878	Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (supp.)
C531684	Hereditary spinal ataxia (supp.)
C536078	Hydrocephalus, X-linked (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169129 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.58	Kd	26.18	nM	CHEMBL5653589
7.39	ED50	40.78	nM	CHEMBL5653589
6.42	IC50	380	nM	CHEMBL5202323

PubChem BioAssay actives

2 with measured affinity, of 3 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148633: Binding affinity to human L1CAM incubated for 45 mins by Kinobead based pull down assay	kd	0.0262	uM
potassium N-[(2-hydroxybenzoyl)amino]carbamodithioate	1847362: Inhibition of L1 (unknown origin) using cefazolin as substrate incubated for 5 mins by Agilent UV8453 spectrometric analysis	ic50	0.3800	uM

CTD chemical–gene interactions

91 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	9
trichostatin A	affects cotreatment, increases expression	4
sodium arsenite	affects splicing, decreases expression, affects cotreatment, increases abundance	4
Estradiol	affects cotreatment, increases expression, decreases expression	4
Ethanol	affects binding, decreases activity, increases response to substance, decreases reaction	3
methylmercuric chloride	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Cadmium	increases abundance, increases expression	2
Cisplatin	affects cotreatment, decreases expression, affects response to substance	2
Smoke	decreases expression, decreases reaction	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
arsenite	increases expression	1
butyraldehyde	increases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
potassium chromate(VI)	increases expression	1
ferrous chloride	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
diallyl trisulfide	decreases reaction, increases expression	1
pentanal	increases expression	1
altertoxin II	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
azoxystrobin	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5098373	Binding	Inhibition of L1 (unknown origin) using cefazolin as substrate incubated for 5 mins by Agilent UV8453 spectrometric analysis	Recent research and development of NDM-1 inhibitors. — Eur J Med Chem

Cellosaurus cell lines

6 cell lines: 4 cancer cell line, 1 induced pluripotent stem cell, 1 spontaneously immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1VE	Abcam HeLa L1CAM KO 1	Cancer cell line	Female
CVCL_B1VF	Abcam HeLa L1CAM KO 2	Cancer cell line	Female
CVCL_B5G6	ZZUi033-A	Induced pluripotent stem cell	Male
CVCL_D1TD	Abcam U-87MG L1CAM KO	Cancer cell line	Male
CVCL_E6X4	OV-MZ-2 Delta(2,27)L1CAM	Cancer cell line	Female
CVCL_X975	CHO-hL1	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

298 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT04107740	PHASE4	COMPLETED	C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration
NCT00380965	PHASE4	COMPLETED	Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy
NCT00487981	PHASE4	TERMINATED	Spinal Cord Stimulation for Painful Diabetic Neuropathy
NCT00904202	PHASE4	COMPLETED	A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions
NCT01192113	PHASE4	COMPLETED	Safety and Efficacy of Mecobalamin Injection in Peripheral Neuropathies Patients (Study JGAZSY091109)
NCT01373983	PHASE4	COMPLETED	Intrathecal Bolus Doses of Ziconotide
NCT01458015	PHASE4	TERMINATED	Tapentadol Versus Oxycodone - a Mechanism-based Treatment Approach in Neuropathic Pain
NCT02074267	PHASE4	COMPLETED	Clinical Study for Assessment of the Efficacy of Gabapentin (Carbatin and Neurontin) in Patients With Neuropathy Pain
NCT02372149	PHASE4	UNKNOWN	IVIg for Demyelination in Diabetes Mellitus
NCT02670161	PHASE4	ENROLLING_BY_INVITATION	Quality Improvement and Practice Based Research in Neurology Using the EMR
NCT07022938	PHASE4	COMPLETED	Nutritional Supplement for Treating Chemotherapy Induced Neuropathy
NCT07025005	PHASE4	RECRUITING	Fenofibrate Role in the Prophylaxis From Peripheral Neuropathy Induced by Bortezomib, Lenalidomide and Dexamethasone (VRd) Protocol in the Treatment of Patients With Multiple Myeloma (MM)
NCT01970098	PHASE3	COMPLETED	A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970111	PHASE3	COMPLETED	An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970124	PHASE3	COMPLETED	A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970137	PHASE3	COMPLETED	A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT02889302	PHASE3	COMPLETED	An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT03408080	PHASE3	ACTIVE_NOT_RECRUITING	Open Pilot Trial of BHV-4157
NCT03701399	PHASE3	ACTIVE_NOT_RECRUITING	Troriluzole in Adult Participants With Spinocerebellar Ataxia
NCT03901638	PHASE3	TERMINATED	Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy
NCT07040137	PHASE3	RECRUITING	Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration
NCT00058071	PHASE3	COMPLETED	Amifostine in Treating Peripheral Neuropathy in Patients Who Have Received Chemotherapy for Cancer
NCT00125268	PHASE3	TERMINATED	Near Infrared Light for the Treatment of Painful Peripheral Neuropathy
NCT00195013	PHASE3	COMPLETED	Randomized Placebo-Controlled Trial of Glutamine for Breast Cancer Patients With Peripheral Neuropathy
NCT00232141	PHASE3	COMPLETED	Study of Pregabalin Versus Placebo in the Treatment of Nerve Pain Associated With HIV Neuropathy
NCT00264875	PHASE3	COMPLETED	Open Label Safety And Efficacy Study Of Pregabalin In Subjects With Nerve Pain Asociated With Human Immunodeficiency Virus (HIV) Neuropathy
NCT00369564	PHASE3	COMPLETED	Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer
NCT00471445	PHASE3	COMPLETED	Topical Amitriptyline and Ketamine Cream in Treating Peripheral Neuropathy Caused by Chemotherapy in Cancer Patients
NCT00489411	PHASE3	COMPLETED	Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer
NCT00710554	PHASE3	COMPLETED	A Study of Sativex® for Pain Relief of Peripheral Neuropathic Pain, Associated With Allodynia
NCT00711880	PHASE3	COMPLETED	A Study of Sativex® for Relief of Peripheral Neuropathic Pain Associated With Allodynia.
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