LAMA1

Summary

LAMA1 (laminin subunit alpha 1, HGNC:6481) is a protein-coding gene on chromosome 18p11.31, encoding Laminin subunit alpha-1 (P25391). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome.

Source: NCBI Gene 284217 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome (Definitive, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 1,746 total — 81 pathogenic, 42 likely-pathogenic
• Phenotypes (HPO): 30
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_005559

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6481
Approved symbol	LAMA1
Name	laminin subunit alpha 1
Location	18p11.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000101680
Ensembl biotype	protein_coding
OMIM	150320
Entrez	284217

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 retained_intron, 5 protein_coding

ENST00000389658, ENST00000484335, ENST00000488064, ENST00000488089, ENST00000490190, ENST00000492048, ENST00000579014, ENST00000585178, ENST00000940200, ENST00000940201, ENST00000940202, ENST00000940203

RefSeq mRNA: 1 — MANE Select: NM_005559 NM_005559

CCDS: CCDS32787

Canonical transcript exons

ENST00000389658 — 63 exons

Exon	Start	End
ENSE00001497139	7117660	7117797
ENSE00001506567	7042145	7042250
ENSE00001506568	7043227	7043405
ENSE00001946648	6941742	6942239
ENSE00003459797	6985237	6985400
ENSE00003459837	6961945	6962059
ENSE00003460060	7007139	7007276
ENSE00003460610	7040076	7040236
ENSE00003460732	6978196	6978378
ENSE00003462654	6947163	6947296
ENSE00003470271	6982497	6982590
ENSE00003471442	6997742	6997884
ENSE00003481796	7049078	7049257
ENSE00003487476	7010200	7010385
ENSE00003490075	7011300	7011479
ENSE00003503111	7037578	7037751
ENSE00003505325	6943180	6943402
ENSE00003505944	6974903	6975036
ENSE00003507719	7002264	7002385
ENSE00003510647	6956636	6956765
ENSE00003514765	6955353	6955465
ENSE00003528096	6973057	6973207
ENSE00003531757	7079975	7080087
ENSE00003532136	7035987	7036088
ENSE00003534418	7013815	7014051
ENSE00003539306	7046278	7046367
ENSE00003545044	6977727	6977881
ENSE00003549910	6959341	6959492
ENSE00003561123	6980521	6980637
ENSE00003561545	7038810	7038950
ENSE00003564231	7080287	7080457
ENSE00003565170	6986137	6986347
ENSE00003569485	6949101	6949259
ENSE00003572116	6975937	6976080
ENSE00003574031	6999911	6999997
ENSE00003582004	6971857	6971981
ENSE00003585077	6999445	6999638
ENSE00003585190	6965288	6965432
ENSE00003588557	7016491	7016671
ENSE00003590113	6993641	6993752
ENSE00003592447	6948403	6948556
ENSE00003599704	7025979	7026106
ENSE00003608606	7015722	7015858
ENSE00003610164	6961586	6961759
ENSE00003611112	7017278	7017384
ENSE00003611736	6958477	6958662
ENSE00003616571	7009239	7009366
ENSE00003622576	6983099	6983234
ENSE00003628335	7008488	7008608
ENSE00003630759	6950782	6950971
ENSE00003642646	7011995	7012138
ENSE00003652897	7044722	7044839
ENSE00003653032	6985527	6985643
ENSE00003658196	7032066	7032176
ENSE00003661585	7024380	7024466
ENSE00003663833	6966147	6966297
ENSE00003666451	7050694	7050936
ENSE00003666767	6992561	6992720
ENSE00003668329	7034479	7034690
ENSE00003670306	7032984	7033095
ENSE00003670786	7023164	7023375
ENSE00003672384	6995357	6995446
ENSE00003694682	6964662	6964803

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 91.82.

FANTOM5 (CAGE): breadth broad, TPM avg 5.3685 / max 205.1486, expressed in 700 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171152	3.6429	632
171153	1.1751	438
171151	0.5506	239

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	91.82	gold quality
right testis	UBERON:0004534	88.39	gold quality
left testis	UBERON:0004533	87.93	gold quality
ileal mucosa	UBERON:0000331	87.08	gold quality
testis	UBERON:0000473	85.56	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.36	gold quality
stromal cell of endometrium	CL:0002255	85.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.46	gold quality
ganglionic eminence	UBERON:0004023	83.30	gold quality
metanephros cortex	UBERON:0010533	83.20	gold quality
colonic mucosa	UBERON:0000317	79.48	gold quality
mucosa of sigmoid colon	UBERON:0004993	77.82	gold quality
rectum	UBERON:0001052	77.47	gold quality
left lobe of thyroid gland	UBERON:0001120	76.88	gold quality
metanephros	UBERON:0000081	75.61	gold quality
mucosa of transverse colon	UBERON:0004991	75.58	gold quality
thyroid gland	UBERON:0002046	75.25	gold quality
right lobe of thyroid gland	UBERON:0001119	75.01	gold quality
body of pancreas	UBERON:0001150	73.83	gold quality
adult mammalian kidney	UBERON:0000082	72.27	gold quality
jejunal mucosa	UBERON:0000399	72.20	gold quality
caudate nucleus	UBERON:0001873	72.20	gold quality
left ovary	UBERON:0002119	72.18	gold quality
cortex of kidney	UBERON:0001225	71.68	gold quality
putamen	UBERON:0001874	71.28	gold quality
nucleus accumbens	UBERON:0001882	70.32	gold quality
duodenum	UBERON:0002114	70.09	gold quality
adenohypophysis	UBERON:0002196	69.97	gold quality
pituitary gland	UBERON:0000007	69.92	gold quality
ovary	UBERON:0000992	69.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	23.60
E-MTAB-9388	yes	11.95
E-ANND-3	yes	8.18
E-MTAB-8271	yes	6.62

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1, GATA6, KLF4, KLF5, KLF6, SOX17, SOX7, SP1, SP3, YY1

miRNA regulators (miRDB)

48 targeting LAMA1, 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-3646	100.00	73.56	5283
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4682	100.00	68.89	1258
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-371B-5P	99.99	75.34	4759
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-122B-5P	99.46	70.81	1457
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-145-3P	99.33	67.66	764
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-3978	99.24	68.39	2201

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 37)

• Exposure of cryptic domains in the alpha 1-chain of laminin-1 by elastase stimulates macrophages urokinase and matrix metalloproteinase-9 expression. (PMID:11827968)
• Alpha 1 laminin was heavily over-expressed in Alzheimer disease frontal cortex, and localized in reactive astrocytes of the grey and white matter, and as punctate deposits in the senile placques of the Alzheimer brain tissue. (PMID:12111806)
• Laminins with alpha1, alpha4, and alpha5 chains are compared to determine laminin isoform-specific promotion of adhesion and migration of human bone marrow progenitor cells. (PMID:12393739)
• mRNA encoding laminin-alpha1, -beta1, and -gamma1 chains was expressed in 90% of endometriotic lesions. (PMID:12615822)
• adhesion to laminin-1 through alpha6-integrin represents a protective mechanism for melanocytes to withstand UVB damage (PMID:15885076)
• analysis of structure and activities reveal differences in laminin G-like domain interactions that should enable dissection of biological roles of different laminin ligands (PMID:17307732)
• analysis of how distinct acidic clusters and hydrophobic residues in the alternative splice domains X1 and X2 of alpha7 integrins define specificity for laminin isoforms (PMID:17618648)
• Real-time PCR showed that ETOH significantly altered the expression of genes involved in cell adhesion. There was an increase in the expression of alpha and beta Laminins 1, beta Integrins 3 and 5, Secreted phosphoprotein1 and Sarcoglycan epsilon. (PMID:18162078)
• Subepicardial localization of CD117-positive cells and expression of laminin-1 and alpha(6) integrin subunits may all correspond to the activation of regeneration involving an epithelial-mesenchymal transition in adult heart (PMID:18436868)
• The laminin and laminin gene expression was higher in the aganglionic segment than in the dilated segment, and the expression decreased stepwisely from the aganglionic segment to the normal segment. (PMID:18661771)
• laminin-111 (alpha(1), beta(1), gamma(1)), which is expressed during embryonic development but absent in normal or dystrophic skeletal muscle, increased alpha(7)-integrin expression in mouse and DMD patient myoblasts (PMID:19416897)
• These results identify a previously undescribed role of carbohydrate-dependent cell-basement membrane interaction in tumor suppression and its control by beta3GnT1 and LARGE. (PMID:19587235)
• Promoter -1030C/T polymorphism of LMNA is a possible genetic predisposition to arterial stiffness in the Japanese population (PMID:19672032)
• Abnormal distribution of laminin alpha1 and laminin alpha5 in glomerular basement membrane is correlated with GBM thickening and splitting in human Alport’s syndrome. (PMID:20019771)
• Laminin-derived peptide AG73 regulates migration, invasion, and protease activity of human oral squamous cell carcinoma cells through syndecan-1 and beta1 integrin. (PMID:20237901)
• The polymorphism of SNP rs2089760, located in the promoter region of LAMA1, may be associated with high myopia in the Chinese population. (PMID:21541277)
• c-Jun/AP-1 activity mediated by JNK, PI3K/Akt and ERK pathways is required for laminin-1-induced neurite outgrowth in human bone marrow mesenchymal stem cells. (PMID:21570970)
• Laminin-alpha1 LG4-5 domain binding to dystroglycan mediates muscle cell survival, growth, and the AP-1 and NF-kappaB transcription factors but also has adverse effects. (PMID:22159078)
• we report associations with the LAMA1 and HMG20A (not previously associated at genome-wide significance in Europeans) gene regions with type 2 diabetes risk (PMID:22693455)
• miR-9 negatively controls lamin A and progerin expression in neural cells. (PMID:22840390)
• Studies indicate that progenitor endothelial cells (ECs), endothelial colony-forming cells (ECFCs), deposit collagen IV, fibronectin, and laminin. (PMID:22919069)
• skin-processed peptides play role in wound healing and antimicrobial response (PMID:24458132)
• Identification of biallelic mutations in LAMA1 as the cause of cerebellar dysplasia with cysts in seven affected individuals. (PMID:25105227)
• Our results indicate that invasion of cervical cancer is accomplished by the remodeling of the interstitial stroma, which process includes decrease and partial replacement of fibronectin and collagens by a laminin-rich matrix (PMID:25885552)
• Novel PMCA3 missense mutation co-occurring with a heterozygous mutation in LAMA1 impaired cellular Ca2+ homeostasis in patients with Cerebellar Ataxia. (PMID:25953895)
• Studies of the hLM alpha-1N C49S mutant show that this mutation causes enhanced self-association behavior, which can explain the inability of laminin bearing this mutation to fulfill functional roles in vivo. (PMID:26215696)
• LAMA1 SNP rs2089760 plays an important role in the development of PM. (PMID:26862816)
• Sixteen novel LAMA1 variants were identified in fourteen families with Poretti-Boltshauser syndrome. The frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect. (PMID:26932191)
• Taken together, these findings suggest that miR-202 may function as a novel tumor suppressor in ESCC by repressing cell proliferation and migration, and its biological effects may attribute the inhibition of LAMA1-mediated FAK-PI3K-Akt signaling. (PMID:27045085)
• LAMA1 deficiency can lead to alteration in cytoskeletal dynamics, which may invariably lead to alteration in dendrite growth and axonal formation. Patient-derived fibroblasts have impaired adhesion, reduced migration, abnormal morphology and increased apoptosis due to impaired activation of Cdc42, a member of the Rho family of GTPases that is involved in cytoskeletal dynamics. (PMID:27095636)
• Laminins are involved in genetic and acquired bullous dermatoses, and collagenoses. (PMID:27464450)
• We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics (PMID:28544784)
• intrinsic interaction between AG73 in the tumor environment and the proteoglycan receptors Sdcs on breast cancer cells in supporting tumor cell adhesion and invasion through filopodia, is an important step in cancer metastasis. (PMID:31183318)
• Organisation of extracellular matrix proteins laminin and agrin in pericapillary basal laminae in mouse brain. (PMID:32072250)
• Spermatogonia Loss Correlates with LAMA 1 Expression in Human Prepubertal Testes Stored for Fertility Preservation. (PMID:33513766)
• Circular RNA hsa_circ_0000277 sequesters miR-4766-5p to upregulate LAMA1 and promote esophageal carcinoma progression. (PMID:34226522)
• Variability of retinopathy consequent upon novel mutations in LAMA1. (PMID:35616092)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lama1	ENSDARG00000102277
mus_musculus	Lama1	ENSMUSG00000032796
rattus_norvegicus	Lama1	ENSRNOG00000017237

Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), ATRNL1 (ENSG00000107518), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)

Protein

Protein identifiers

Laminin subunit alpha-1 — P25391 (reviewed: P25391)

Alternative names: Laminin A chain, Laminin-1 subunit alpha, Laminin-3 subunit alpha, S-laminin subunit alpha

All UniProt accessions (1): P25391

UniProt curated annotations — full annotation on UniProt →

Function. Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. As a ligand for alpha-dystroglycan, it is involved in a number of processes including epithelium branching morphogenesis, down-regulation of apoptotic signals in muscle via the activation of PI3K/AKT signaling, and activation of RAC1 signaling. As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway.

Subunit / interactions. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-1 is a subunit of laminin-1 (laminin-111 or EHS laminin) and laminin-3 (laminin-121 or S-laminin). Interacts with alpha-dystroglycan; the interaction is required for a number of processes including epithelium branching morphogenesis, and down-regulation of apoptotic signals in muscle via the activation of PI3K/AKT signaling.

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.

Post-translational modifications. Tyrosine phosphorylated by PKDCC/VLK.

Disease relevance. Poretti-Boltshauser syndrome (PTBHS) [MIM:615960] An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domains VI, IV and G are globular.

RefSeq proteins (1): NP_005550* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000034	Laminin_IV	Domain
IPR000742	EGF	Domain
IPR001791	Laminin_G	Domain
IPR002049	LE_dom	Domain
IPR008211	Laminin_N	Domain
IPR009254	Laminin_aI	Domain
IPR010307	Laminin_dom_II	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR050440	Laminin/Netrin_ECM	Family
IPR056863	LMN_ATRN_NET-like_EGF	Domain

Pfam: PF00052, PF00053, PF00054, PF00055, PF06008, PF06009, PF24973

UniProt features (131 total): disulfide bond 67, domain 27, sequence variant 13, sequence conflict 13, glycosylation site 6, signal peptide 1, chain 1, region of interest 1, coiled-coil region 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for P25391 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Disulfide bonds (67): 2271–2297, 2457–2481, 2646–2673, 2860–2885, 3039–3070, 270–279, 272–290, 292–301, 304–324, 327–336, 329–361, 364–373, 376–394, 397–409, 399–427, 429–438, 441–451, 454–467, 456–471, 473–482 …

Glycosylation sites (6): 665, 1579, 1689, 1717, 2047, 2243

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-3000157	Laminin interactions
R-HSA-3000171	Non-integrin membrane-ECM interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-373760	L1CAM interactions
R-HSA-8874081	MET activates PTK2 signaling
R-HSA-9638630	Attachment of bacteria to epithelial cells
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)
R-HSA-9925563	Developmental Lineage of Pancreatic Ductal Cells
R-HSA-1266738	Developmental Biology
R-HSA-1474244	Extracellular matrix organization
R-HSA-162582	Signal Transduction
R-HSA-422475	Axon guidance
R-HSA-6806834	Signaling by MET
R-HSA-8875878	MET promotes cell motility
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases
R-HSA-9675108	Nervous system development

MSigDB gene sets: 306 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, CREL_01, MYAATNNNNNNNGGC_UNKNOWN, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_MONOPOLAR_CELL_POLARITY, GOBP_GLAND_MORPHOGENESIS, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_SALIVARY_GLAND_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY, GOBP_EPITHELIAL_TUBE_BRANCHING_INVOLVED_IN_LUNG_MORPHOGENESIS, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, SP3_Q3, ATACCTC_MIR202

GO Biological Process (20): morphogenesis of an epithelial sheet (GO:0002011), cell adhesion (GO:0007155), cell surface receptor signaling pathway (GO:0007166), negative regulation of muscle cell apoptotic process (GO:0010656), regulation of cell migration (GO:0030334), neuron projection development (GO:0031175), positive regulation of Rac protein signal transduction (GO:0035022), establishment of epithelial cell apical/basal polarity (GO:0045198), positive regulation of cell adhesion (GO:0045785), regulation of embryonic development (GO:0045995), positive regulation of muscle cell differentiation (GO:0051149), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), epithelial tube branching involved in lung morphogenesis (GO:0060441), branching involved in salivary gland morphogenesis (GO:0060445), retinal blood vessel morphogenesis (GO:0061304), regulation of basement membrane organization (GO:0110011), positive regulation of integrin-mediated signaling pathway (GO:2001046), tissue development (GO:0009888), regulation of cell adhesion (GO:0030155), retina development in camera-type eye (GO:0060041)

GO Molecular Function (5): extracellular matrix structural constituent (GO:0005201), glycosphingolipid binding (GO:0043208), receptor ligand activity (GO:0048018), signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (10): extracellular region (GO:0005576), basement membrane (GO:0005604), laminin-111 trimer (GO:0005606), laminin-121 trimer (GO:0005608), obsolete extracellular space (GO:0005615), cell-cell junction (GO:0005911), membrane (GO:0016020), extracellular matrix (GO:0031012), protein complex involved in cell-matrix adhesion (GO:0098637), laminin trimer (GO:0043256)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Extracellular matrix organization	3
Axon guidance	1
MET promotes cell motility	1
Biofilm formation	1
Non-integrin membrane-ECM interactions	1
Developmental Cell Lineages of the Exocrine Pancreas	1
Nervous system development	1
Signaling by Receptor Tyrosine Kinases	1
Signaling by MET	1
Signal Transduction	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	2
cell adhesion	2
anatomical structure development	2
extracellular matrix	2
cellular anatomical structure	2
laminin trimer	2
morphogenesis of an epithelium	1
cellular process	1
muscle cell apoptotic process	1
regulation of muscle cell apoptotic process	1
negative regulation of apoptotic process	1
cell migration	1
regulation of cell motility	1
neuron development	1
plasma membrane bounded cell projection organization	1
Rac protein signal transduction	1
regulation of Rac protein signal transduction	1
positive regulation of small GTPase mediated signal transduction	1
polarized epithelial cell differentiation	1
establishment of apical/basal cell polarity	1
establishment or maintenance of epithelial cell apical/basal polarity	1
establishment of epithelial cell polarity	1
regulation of cell adhesion	1
positive regulation of cellular process	1
embryo development	1
regulation of multicellular organismal development	1
muscle cell differentiation	1
positive regulation of cell differentiation	1
regulation of muscle cell differentiation	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
positive regulation of intracellular signal transduction	1
branching morphogenesis of an epithelial tube	1
lung morphogenesis	1
salivary gland morphogenesis	1
morphogenesis of a branching epithelium	1
blood vessel morphogenesis	1
retina vasculature morphogenesis in camera-type eye	1
basement membrane organization	1
regulation of extracellular matrix organization	1

Protein interactions and networks

STRING

1262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LAMA1	LAMB1	P07942	827
LAMA1	NLGN2	Q8NFZ4	719
LAMA1	LAMC1	P11047	696
LAMA1	CLEC3A	O75596	669
LAMA1	COL4A2	P08572	640
LAMA1	NID1	P14543	630
LAMA1	ITGA6	P23229	627
LAMA1	COL6A1	P12109	618
LAMA1	ITGA7	Q13683	600
LAMA1	FAT3	Q8TDW7	592
LAMA1	ITGA2	P17301	580
LAMA1	NID2	Q14112	568
LAMA1	COL11A1	P12107	560
LAMA1	SHBG	P04278	549
LAMA1	ITGB1	P05556	549

IntAct

68 interactions, top by confidence:

A	B	Type	Score
ARRDC1	WWP2	psi-mi:“MI:0914”(association)	0.850
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
p4c	LAMA1	psi-mi:“MI:0915”(physical association)	0.520
Tmpo	LAMA1	psi-mi:“MI:0407”(direct interaction)	0.440
LAMA1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
Prkci	LLGL2	psi-mi:“MI:0914”(association)	0.350
Kctd5		psi-mi:“MI:0914”(association)	0.350
Tube1		psi-mi:“MI:0914”(association)	0.350
Bag2		psi-mi:“MI:0914”(association)	0.350
Tubg1	RTL8C	psi-mi:“MI:0914”(association)	0.350
Get4	BAG6	psi-mi:“MI:0914”(association)	0.350
Dctn4	DCTN6	psi-mi:“MI:0914”(association)	0.350
STRN3	STK24	psi-mi:“MI:0914”(association)	0.350
TUBG1	DPM1	psi-mi:“MI:0914”(association)	0.350
Myh3	RPL10	psi-mi:“MI:0914”(association)	0.350
Immt	GOSR1	psi-mi:“MI:0914”(association)	0.350
TOMM40	NOS1AP	psi-mi:“MI:0914”(association)	0.350
Trim32	NSF	psi-mi:“MI:0914”(association)	0.350
Prmt6	LAMA1	psi-mi:“MI:0914”(association)	0.350
NES	RPL10	psi-mi:“MI:0914”(association)	0.350
ATL2	ACRBP	psi-mi:“MI:0914”(association)	0.350
CBX4	SDC2	psi-mi:“MI:0914”(association)	0.350

BioGRID (75): LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS), LAMA1 (Affinity Capture-MS)

ESM2 similar proteins: A0A6I8RMG7, A0JP86, A4D0S4, O54890, O70309, P02468, P02469, P05106, P0CY46, P11046, P11047, P13387, P13388, P15215, P15800, P18084, P18563, P18564, P19137, P24043, P25391, P35555, P55268, P80747, P98133, Q07441, Q18823, Q1LVF0, Q1RPR6, Q2KIT5, Q5RB89, Q60675, Q61220, Q61292, Q61526, Q61554, Q61555, Q62918, Q6AYF4, Q6UXH1

Diamond homologs: A0JP86, A2ASQ1, G5ECE3, O00468, O00634, O09118, O15230, O75445, O75882, O95631, P02468, P11047, P15215, P19137, P24043, P25304, P25391, P31696, P34710, P97927, Q00174, Q01635, Q13751, Q13753, Q16363, Q16787, Q18823, Q19981, Q1LVF0, Q24567, Q24568, Q27262, Q2HXW4, Q2QI47, Q5RB89, Q5VV63, Q60675, Q61001, Q61087, Q61092

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
LAMA1	“form complex”	Laminin-1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

1746 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	81
Likely pathogenic	42
Uncertain significance	876
Likely benign	512
Benign	101

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1027444	NM_005559.4(LAMA1):c.1404_1405del (p.Gly469fs)	Pathogenic
1075086	NM_005559.4(LAMA1):c.1972C>T (p.Gln658Ter)	Pathogenic
1075979	NM_005559.4(LAMA1):c.4676_4679del (p.Glu1559fs)	Pathogenic
1098868	NM_005559.4(LAMA1):c.494del (p.Ile165fs)	Pathogenic
1098869	NM_005559.4(LAMA1):c.3053del (p.Pro1018fs)	Pathogenic
1098918	NM_005559.4(LAMA1):c.2962del (p.Tyr988fs)	Pathogenic
1098919	NM_005559.4(LAMA1):c.1281C>A (p.Cys427Ter)	Pathogenic
1284915	NM_005559.4(LAMA1):c.842G>A (p.Trp281Ter)	Pathogenic
1323157	NM_005559.4(LAMA1):c.2480G>A (p.Trp827Ter)	Pathogenic
1323159	NM_005559.4(LAMA1):c.6489+1G>C	Pathogenic
1351928	NM_005559.4(LAMA1):c.6517C>T (p.Arg2173Ter)	Pathogenic
1410367	NM_005559.4(LAMA1):c.6861dup (p.Ile2288fs)	Pathogenic
144107	NM_005559.4(LAMA1):c.588+2T>G	Pathogenic
144108	NM_005559.4(LAMA1):c.7965-15_7965-3del	Pathogenic
144109	NM_005559.4(LAMA1):c.2986del (p.Thr996fs)	Pathogenic
144110	NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs)	Pathogenic
144111	NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter)	Pathogenic
1457019	NM_005559.4(LAMA1):c.7946dup (p.Asn2649fs)	Pathogenic
1675304	NM_005559.4(LAMA1):c.3919C>T (p.Arg1307Ter)	Pathogenic
1708460	GRCh37/hg19 18p11.31-11.23(chr18:6939845-8087455)x3	Pathogenic
1709400	NM_005559.4(LAMA1):c.4807-2A>G	Pathogenic
1804139	NM_005559.4(LAMA1):c.2932_2933delinsG (p.Lys978fs)	Pathogenic
1805047	NM_005559.4(LAMA1):c.6333dup (p.Gln2112fs)	Pathogenic
1897152	NM_005559.4(LAMA1):c.8777del (p.Asn2926fs)	Pathogenic
1918245	NM_005559.4(LAMA1):c.448del (p.Gln150fs)	Pathogenic
1947866	NM_005559.4(LAMA1):c.2481G>A (p.Trp827Ter)	Pathogenic
2007972	NM_005559.4(LAMA1):c.3042T>A (p.Cys1014Ter)	Pathogenic
2015084	NM_005559.4(LAMA1):c.3667C>T (p.Gln1223Ter)	Pathogenic
2015122	NM_005559.4(LAMA1):c.6982C>T (p.Gln2328Ter)	Pathogenic
2019646	NM_005559.4(LAMA1):c.7628_7632del (p.Pro2543fs)	Pathogenic

SpliceAI

9908 predictions. Top by Δscore:

Variant	Effect	Δscore
18:6942235:ACCAG:A	acceptor_gain	1.0000
18:6942236:CCAG:C	acceptor_gain	1.0000
18:6942236:CCAGC:C	acceptor_gain	1.0000
18:6942237:CAG:C	acceptor_gain	1.0000
18:6942237:CAGC:C	acceptor_gain	1.0000
18:6942238:AG:A	acceptor_gain	1.0000
18:6942240:C:CC	acceptor_gain	1.0000
18:6942245:C:CT	acceptor_gain	1.0000
18:6942246:A:T	acceptor_gain	1.0000
18:6943174:ACAT:A	donor_loss	1.0000
18:6943178:A:AC	donor_gain	1.0000
18:6943178:ACC:A	donor_loss	1.0000
18:6943179:C:CC	donor_gain	1.0000
18:6947158:CCCA:C	donor_loss	1.0000
18:6947159:CCAC:C	donor_loss	1.0000
18:6947160:CA:C	donor_loss	1.0000
18:6947161:A:C	donor_loss	1.0000
18:6947162:C:CG	donor_loss	1.0000
18:6947292:TTTGA:T	acceptor_gain	1.0000
18:6947294:TGA:T	acceptor_gain	1.0000
18:6947297:C:CC	acceptor_gain	1.0000
18:6948422:T:TA	donor_gain	1.0000
18:6948441:T:TA	donor_gain	1.0000
18:6949095:GCTTA:G	donor_loss	1.0000
18:6949096:CTTA:C	donor_loss	1.0000
18:6949097:TTACA:T	donor_loss	1.0000
18:6949098:TA:T	donor_loss	1.0000
18:6949099:A:AC	donor_gain	1.0000
18:6949099:A:C	donor_loss	1.0000
18:6949100:C:CA	donor_gain	1.0000

AlphaMissense

20229 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:6965302:C:G	R2394P	0.999
18:7050736:G:C	C182W	0.999
18:7050737:C:G	C182S	0.999
18:7050738:A:G	C182R	0.999
18:7050738:A:T	C182S	0.999
18:7050879:A:G	W135R	0.999
18:7050879:A:T	W135R	0.999
18:7080035:A:C	S95R	0.999
18:7080035:A:T	S95R	0.999
18:7080037:T:G	S95R	0.999
18:7080041:C:A	W93C	0.999
18:7080041:C:G	W93C	0.999
18:7080043:A:G	W93R	0.999
18:7080043:A:T	W93R	0.999
18:7080370:C:G	C50S	0.999
18:7080370:C:T	C50Y	0.999
18:7080371:A:G	C50R	0.999
18:7080371:A:T	C50S	0.999
18:6971901:C:A	W2285C	0.998
18:6971901:C:G	W2285C	0.998
18:6977747:C:G	A2109P	0.998
18:7049172:C:G	R225P	0.998
18:7050737:C:T	C182Y	0.998
18:7050806:C:G	C159S	0.998
18:7050807:A:G	C159R	0.998
18:7050807:A:T	C159S	0.998
18:7050837:A:G	W149R	0.998
18:7050837:A:T	W149R	0.998
18:7080313:C:G	C69S	0.998
18:7080314:A:T	C69S	0.998

dbSNP variants (sampled 300 via entrez): RS1000008775 (18:6972417 A>G), RS1000046772 (18:7045032 A>G), RS1000047467 (18:7007520 T>C), RS1000078969 (18:7113083 G>A,C), RS1000091249 (18:6997628 G>A,C,T), RS1000093070 (18:6987307 C>G), RS1000098743 (18:7045269 G>A), RS1000126833 (18:6967146 C>G), RS1000143719 (18:7018099 G>C), RS1000160537 (18:7078312 G>A,T), RS1000175316 (18:7029730 A>G), RS1000208806 (18:7039106 A>G), RS1000214968 (18:7078413 G>A,T), RS1000225157 (18:7107825 T>A,C,G), RS1000239902 (18:7102096 T>C)

Disease associations

OMIM: gene MIM:150320 | disease phenotypes: MIM:615960

GenCC curated gene-disease

Disease	Classification	Inheritance
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	Definitive	Autosomal recessive

Mondo (5): ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome (MONDO:0014419), inherited retinal dystrophy (MONDO:0019118), optic atrophy (MONDO:0003608), retinal disorder (MONDO:0005283), intellectual disability (MONDO:0001071)

Orphanet (3): Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome (Orphanet:370022), OBSOLETE: Inherited retinal disorder (Orphanet:71862), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000486	Strabismus
HP:0000540	Hypermetropia
HP:0000545	Myopia
HP:0000556	Retinal dystrophy
HP:0000639	Nystagmus
HP:0000646	Amblyopia
HP:0000657	Oculomotor apraxia
HP:0000750	Delayed speech and language development
HP:0001105	Retinal atrophy
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001290	Generalized hypotonia
HP:0001320	Cerebellar vermis hypoplasia
HP:0002198	Dilated fourth ventricle
HP:0002282	Gray matter heterotopia
HP:0002342	Moderate intellectual disability
HP:0002350	Cerebellar cyst
HP:0002363	Abnormal brainstem morphology
HP:0002518	Abnormal periventricular white matter morphology
HP:0002599	Head titubation
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003828	Variable expressivity
HP:0007033	Cerebellar dysplasia
HP:0007068	Inferior cerebellar vermis hypoplasia
HP:0011933	Elongated superior cerebellar peduncle
HP:0030329	Retinal thinning on OCT
HP:0100543	Cognitive impairment

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001550_2	Type 2 diabetes	8.000000e-09
GCST001591_15	Response to citalopram treatment	4.000000e-06
GCST001591_3	Response to citalopram treatment	5.000000e-07
GCST006867_80	Type 2 diabetes	2.000000e-08
GCST009028_27	Adverse response to drug	8.000000e-07
GCST009379_216	Type 2 diabetes	2.000000e-08
GCST010118_66	Type 2 diabetes	9.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009658	adverse effect

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2364187 (PROTEIN COMPLEX GROUP), CHEMBL4523594 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases methylation, affects cotreatment, increases abundance, increases expression, decreases expression	6
bisphenol A	increases expression, affects cotreatment, decreases expression	4
Cadmium Chloride	decreases expression, increases expression	4
Tobacco Smoke Pollution	affects expression, increases expression	3
Zoledronic Acid	decreases expression	2
Arsenic	increases abundance, increases expression, affects cotreatment, decreases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Tretinoin	decreases expression, increases expression	2
bisphenol F	affects cotreatment, decreases expression	1
bufotalin	increases expression	1
propionaldehyde	increases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, increases expression	1
sodium arsenate	increases abundance, increases expression	1
arsenite	decreases expression	1
sulforaphane	increases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
butyraldehyde	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
Huang Qi	decreases reaction, increases expression, affects cotreatment	1
aflatoxin B2	decreases methylation	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
lei gong teng	affects binding	1
pentanal	increases expression	1
dinophysistoxin 1	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Coptidis rhizoma extract	affects cotreatment, decreases reaction, increases expression	1
azaspiracid	decreases expression	1
abrine	increases expression	1
Centella asiatica extract	increases expression, affects cotreatment, decreases reaction	1
Sugars	affects cotreatment, decreases reaction, increases 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
CHEMBL4388731	Binding	Binding affinity to biotin-labeled human recombinant laminin-1 at 10 ug/ml in pH 7.4 Tris buffer by fluorescence microarray method	Synthetic glycopeptides reveal specific binding pattern and conformational change at O-mannosylated position of α-dystroglycan by POMGnT1 catalyzed GlcNAc modification. — Bioorg Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01955135	PHASE4	COMPLETED	Anesthesia for Retinopathy of Prematurity
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT01373476	PHASE2	COMPLETED	Multicentre, Randomized, Controlled Trial of Qideng Mingmu Capsule in The Treatment of Diabetic Retinopathy
NCT01793090	PHASE2	COMPLETED	EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT01064505	PHASE1	COMPLETED	Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701	PHASE1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation