POMT1

Summary

POMT1 (protein O-mannosyltransferase 1, HGNC:9202) is a protein-coding gene on chromosome 9q34.13, encoding Protein O-mannosyl-transferase 1 (Q9Y6A1). Transfers mannosyl residues to the hydroxyl group of serine or threonine residues.

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 10585 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopathy caused by variation in POMT1 (Definitive, ClinGen) — +8 more curated relationships
• Clinical variants (ClinVar): 1,307 total — 94 pathogenic, 68 likely-pathogenic
• Phenotypes (HPO): 201
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001077365

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9202
Approved symbol	POMT1
Name	protein O-mannosyltransferase 1
Location	9q34.13
Locus type	gene with protein product
Status	Approved
Aliases	LGMD2K
Ensembl gene	ENSG00000130714
Ensembl biotype	protein_coding
OMIM	607423
Entrez	10585

Gene structure

Transcript identifiers

Ensembl transcripts: 82 — 29 protein_coding, 23 nonsense_mediated_decay, 17 retained_intron, 13 protein_coding_CDS_not_defined

ENST00000341012, ENST00000372220, ENST00000372228, ENST00000402686, ENST00000404875, ENST00000415075, ENST00000418774, ENST00000423007, ENST00000430619, ENST00000441334, ENST00000448212, ENST00000462375, ENST00000467848, ENST00000483472, ENST00000485278, ENST00000494883, ENST00000676640, ENST00000676803, ENST00000676835, ENST00000676915, ENST00000677028, ENST00000677029, ENST00000677099, ENST00000677167, ENST00000677216, ENST00000677221, ENST00000677293, ENST00000677295, ENST00000677444, ENST00000677586, ENST00000677626, ENST00000677677, ENST00000677729, ENST00000677853, ENST00000677944, ENST00000677983, ENST00000678202, ENST00000678264, ENST00000678303, ENST00000678366, ENST00000678546, ENST00000678548, ENST00000678626, ENST00000678693, ENST00000678707, ENST00000678733, ENST00000678739, ENST00000678768, ENST00000678785, ENST00000678795, ENST00000678833, ENST00000678942, ENST00000679023, ENST00000679073, ENST00000679076, ENST00000679111, ENST00000679189, ENST00000679221, ENST00000682070, ENST00000682535, ENST00000682539, ENST00000682563, ENST00000682639, ENST00000682813, ENST00000683110, ENST00000683134, ENST00000683229, ENST00000683231, ENST00000683392, ENST00000683615, ENST00000683712, ENST00000683855, ENST00000683900, ENST00000684062, ENST00000684399, ENST00000684579, ENST00000684679, ENST00000851501, ENST00000851502, ENST00000929070, ENST00000955371, ENST00000955372

RefSeq mRNA: 20 — MANE Select: NM_001077365 NM_001077365, NM_001077366, NM_001136113, NM_001136114, NM_001353193, NM_001353194, NM_001353195, NM_001353196, NM_001353197, NM_001353198, NM_001353199, NM_001353200, NM_001374689, NM_001374690, NM_001374691, NM_001374692, NM_001374693, NM_001374695, NM_001411024, NM_007171

CCDS: CCDS43894, CCDS43895, CCDS48045, CCDS6943, CCDS94516, CCDS94517, CCDS94518, CCDS94519

Canonical transcript exons

ENST00000402686 — 20 exons

Exon	Start	End
ENSE00001288801	131511337	131511467
ENSE00001426744	131509903	131509996
ENSE00003462524	131520080	131520193
ENSE00003495016	131522047	131522224
ENSE00003537606	131519389	131519486
ENSE00003561171	131509743	131509808
ENSE00003572441	131518837	131518957
ENSE00003579097	131515426	131515522
ENSE00003587664	131506114	131506220
ENSE00003609899	131508911	131509022
ENSE00003633717	131506403	131506453
ENSE00003638300	131512041	131512136
ENSE00003651914	131518445	131518537
ENSE00003667689	131521346	131521472
ENSE00003786588	131507368	131507514
ENSE00003787003	131513239	131513331
ENSE00003788278	131510260	131510415
ENSE00003899798	131502918	131503073
ENSE00003903630	131522932	131523799
ENSE00003906328	131504189	131504340

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 97.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.4737 / max 151.9426, expressed in 1801 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99109	17.4737	1801

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	97.12	gold quality
cerebellar hemisphere	UBERON:0002245	96.90	gold quality
cerebellar cortex	UBERON:0002129	96.67	gold quality
left testis	UBERON:0004533	96.61	gold quality
right testis	UBERON:0004534	96.46	gold quality
cerebellum	UBERON:0002037	94.64	gold quality
right uterine tube	UBERON:0001302	94.05	gold quality
testis	UBERON:0000473	93.89	gold quality
mucosa of stomach	UBERON:0001199	93.79	gold quality
right frontal lobe	UBERON:0002810	93.78	gold quality
adenohypophysis	UBERON:0002196	93.75	gold quality
cortical plate	UBERON:0005343	93.69	gold quality
apex of heart	UBERON:0002098	93.14	gold quality
sural nerve	UBERON:0015488	93.01	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.01	gold quality
lower esophagus	UBERON:0013473	92.98	gold quality
right ovary	UBERON:0002118	92.62	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.58	gold quality
left ovary	UBERON:0002119	92.51	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.38	gold quality
metanephros cortex	UBERON:0010533	92.24	gold quality
anterior cingulate cortex	UBERON:0009835	92.14	gold quality
cingulate cortex	UBERON:0003027	92.07	gold quality
gastrocnemius	UBERON:0001388	91.96	gold quality
pituitary gland	UBERON:0000007	91.86	gold quality
muscle of leg	UBERON:0001383	91.80	gold quality
stromal cell of endometrium	CL:0002255	91.75	gold quality
body of uterus	UBERON:0009853	91.62	gold quality
tibial nerve	UBERON:0001323	91.39	gold quality
ganglionic eminence	UBERON:0004023	91.30	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting POMT1, 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-6744-5P	99.93	66.82	748
HSA-MIR-609	99.82	64.26	505
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4711-3P	98.97	66.87	1020
HSA-MIR-218-1-3P	98.63	67.97	832
HSA-MIR-6755-3P	98.61	66.90	834
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-146B-3P	97.83	65.29	782
HSA-MIR-6859-3P	97.26	64.69	428
HSA-MIR-3907	96.76	65.04	662
HSA-MIR-549A-5P	96.35	68.08	587
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-3622B-5P	94.62	64.58	835
HSA-MIR-4638-5P	92.31	65.23	86

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 28)

• Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome (PMID:12369018)
• Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. (PMID:12757935)
• active enzyme complex of POMT1 and POMT2 suggests that the regulation of protein O-mannosylation is complex and appears to be required for normal structure and function of alpha-dystroglycan in muscle and brain (PMID:14699049)
• The authors report on a patient with Walker-Warburg syndrome and a novel POMT1 mutation. The patient expressed alpha-dystroglycan core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with loss of laminin-binding activity (PMID:15037715)
• Results indicate that mutations in the protein O-mannosyltransferase 1 gene result in a defect of protein O-mannosylation in Walker-Warburg syndrome patients. (PMID:15522202)
• the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation. (PMID:15792865)
• human protein O-mannosyltransferases 1 and 2 form heterocomplexes which possess protein O-mannosyltransferase activity (PMID:16698797)
• Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes. (PMID:16887026)
• An inverse Alu-repeated DNA element within exon 3 is associated with Walker Warburg syndrome in French Caucasian families. (PMID:17079174)
• In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations. (PMID:17869517)
• Thirteen CMD patients showed mutations in POMT1, But normal brain MRI associated with mental retardation and microcephaly. mutations in POMT1 (six out of 13). (PMID:18513969)
• We conclude that a significant increase of POMT1 missense mutations may indicate a functional role in neoplastic conditions in individual glioneuronal and glial brain tumors. (PMID:18647264)
• A double homozygous mutation in the POMT1 gene in two unrelated Gypsy families, is reported. (PMID:19519795)
• pyramidal neurons frequently displayed abnormal (oblique, horizontal, or inverted) orientation in a 2.5-month-old infant with Walker-Warburg syndrome homozygotic for a novel POMT1 gene mutation (PMID:19639522)
• the N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex. (PMID:19880378)
• the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis (PMID:20816175)
• the effects of replacing Arg(64), Glu(78) and Arg(138)residues in human POMT1 and POMT2 with Ala on complex formation and enzymatic activity were studied. (PMID:21782786)
• Three patients with heterozygous POMT1 mutations showed left ventricular (LV) dilation and/or decrease in myocardial contractile force. (PMID:22549409)
• report of 2 male siblings and an unrelated female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities; a novel missense mutation (c.1958C>T; p.Pro653Leu) was identified (PMID:24491487)
• Inhibition of POMT1/2 in human mesencyhmal stem cells , resulted in complete abolishment of chondrogenesis and alterations of adipogenic and osteogenic potential together with a lethal effect during myogenic induction. (PMID:26245304)
• Our results suggest that POMT activity is inversely proportional to clinical severity, and demonstrate that skin fibroblasts can be used for differential diagnosis of patients with alpha-dystroglycanopathies. We have provided clinical, histological, enzymatic and genetic evidence of POMT1 involvement in five unrelated Chinese patients. (PMID:27193224)
• results demonstrate functional and biochemical similarities between POMT1 and its orthologue from bakers’ yeast Pmt4. (PMID:27358400)
• These findings may expand phenotype and mutation spectrum of the POMT1 gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease (PMID:28157257)
• O-mannosylation of cadherins and protocadherins does not require POMT1 and/or POMT2 in contrast to alpha-dystroglycan, and moreover, the O-Man glycans on cadherins are not elongated. (PMID:28512129)
• The child was found to carry a heterozygous missense mutation c.1939G>A (p.Ala647Thr) in exon 19 of the protein-O-mannosyltransferase 1 (POMT1) gene inherited from the mother and a heterozygous frameshift mutation c.2141delG (p.Trp714Ter) in exon 20 inherited from the father. (PMID:29419866)
• In this review, we highlight the present knowledge of the identified disease-associated POMT1 gene mutations and genetic animal models related to the POMT1 gene. (PMID:30454682)
• Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1. (PMID:33863907)
• POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.", trans “POMT1POMT22alpha-. (PMID:34565739)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pomt1	ENSDARG00000067670
mus_musculus	Pomt1	ENSMUSG00000039254
rattus_norvegicus	Pomt1	ENSRNOG00000010477
drosophila_melanogaster	rt	FBGN0003292

Paralogs (3): POMT2 (ENSG00000009830), SDF2L1 (ENSG00000128228), SDF2 (ENSG00000132581)

Protein

Protein identifiers

Protein O-mannosyl-transferase 1 — Q9Y6A1 (reviewed: Q9Y6A1)

Alternative names: Dolichyl-phosphate-mannose–protein mannosyltransferase 1

All UniProt accessions (35): Q9Y6A1, A0A140VKE0, A0A1V1FTP4, A0A7I2V2G9, A0A7I2V2K0, A0A7I2V2T7, A0A7I2V356, A0A7I2V3H8, A0A7I2V3L5, A0A7I2V445, A0A7I2V4L4, A0A7I2V4U0, A0A7I2V4U3, A0A7I2V505, A0A7I2V524, A0A7I2V568, A0A7I2V5P7, A0A7I2V5S7, A0A7I2V5V4, A0A7I2V5W1, A0A7I2V5X3, A0A7I2YQK3, A0A804HHZ8, A0A804HI97, A0A804HIE5, A0A804HKS2, A0A804HKU5, B4DTW4, B4DWD8, Q5JSZ6, Q5JT02, Q5JT03, Q5JT04, Q5JT05, Q5JT07

UniProt curated annotations — full annotation on UniProt →

Function. Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins.

Subunit / interactions. Interacts with POMT2.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.

Disease relevance. Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 (MDDGB1) [MIM:613155] An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. The disease is caused by variants affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670] An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. The disease is caused by variants affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308] An autosomal recessive degenerative myopathy associated with mild intellectual disability without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on activity in vitro.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 39 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9Y6A1-1	1	yes
Q9Y6A1-2	2
Q9Y6A1-3	3
Q9Y6A1-4	4

RefSeq proteins (20): NP_001070833, NP_001070834, NP_001129585, NP_001129586, NP_001340122, NP_001340123, NP_001340124, NP_001340125, NP_001340126, NP_001340127, NP_001340128, NP_001340129, NP_001361618, NP_001361619, NP_001361620, NP_001361621, NP_001361622, NP_001361624, NP_001397953, NP_009102 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003342	ArnT-like_N	Domain
IPR016093	MIR_motif	Domain
IPR027005	PMT-like	Family
IPR032421	PMT_4TMC	Domain
IPR036300	MIR_dom_sf	Homologous_superfamily

Pfam: PF02366, PF02815, PF16192

Enzyme classification (BRENDA):

• EC 2.4.1.109 — dolichyl-phosphate-mannose-protein mannosyltransferase (BRENDA: 24 organisms, 130 substrates, 16 inhibitors, 22 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

13 substrates with measured Km, best-characterized 13. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
SYNTHETIC PEPTIDE BASED ON A MUCIN-LIKE DOMAIN I	0.63–9.7	5
AC-TYR-ALA-THR-ALA-VAL-NH2	0.25–15	3
RSPSPSTQ	10–20	2
TYR-ASN-PRO-THR-SER-VAL	1–3.3	2
AC-ALA-THR-ALA-NH2	6.7	1
AC-TYR-ASN-PRO-THR-SER-VAL-NH2	4.3	1
BIOTIN-TYR-LEU-ALA-VAL-NH2	0.1	1
BIOTIN-TYR-PRO-THR-ALA-VAL-NH2	0.85	1
BIOTIN-TYR-THR-ALA-VAL-NH2	0.075	1
DOLICHYL PHOSPHATE D-MANNOSE	0.4	1
TYR-ALA-THR-ALA-VAL	2.2	1
TYR-LEU-THR-ALA-VAL	2.5	1
TYR-PRO-THR-ALA-VAL	7.3	1

Catalyzed reactions (Rhea), 2 shown:

• a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:17377)
• a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:53396)

UniProt features (49 total): sequence variant 19, transmembrane region 12, sequence conflict 8, domain 3, glycosylation site 3, splice variant 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6A1-F1	88.09	0.67

Functional residue map

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

Glycosylation sites (3): 435, 471, 539

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-5083629	Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
R-HSA-5083633	Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
R-HSA-8932504	DAG1 core M2 glycosylations
R-HSA-8932505	DAG1 core M3 glycosylations
R-HSA-8932506	DAG1 core M1 glycosylations
R-HSA-9768727	Regulation of CDH1 posttranslational processing and trafficking to plasma membrane

MSigDB gene sets: 410 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOCC_SECRETORY_GRANULE, CMYB_01, CHANDRAN_METASTASIS_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, BOYLAN_MULTIPLE_MYELOMA_C_CLUSTER_UP, XU_GH1_AUTOCRINE_TARGETS_DN, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, CHANDRAN_METASTASIS_TOP50_DN, GOCC_SECRETORY_VESICLE, GOCC_TRANSFERASE_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (4): protein O-linked glycosylation (GO:0006493), extracellular matrix organization (GO:0030198), protein O-linked glycosylation via mannose (GO:0035269), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (6): mannosyltransferase activity (GO:0000030), dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169), metal ion binding (GO:0046872), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (7): acrosomal vesicle (GO:0001669), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), sarcoplasmic reticulum (GO:0016529), dolichyl-phosphate-mannose-protein mannosyltransferase complex (GO:0031502), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
DAG1 glycosylations	3
Diseases associated with O-glycosylation of proteins	2
Regulation of CDH1 Expression and Function	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
glycoprotein biosynthetic process	1
extracellular structure organization	1
external encapsulating structure organization	1
protein O-linked glycosylation	1
hexosyltransferase activity	1
mannosyltransferase activity	1
protein O-linked glycosylation via mannose	1
catalytic activity, acting on a protein	1
cation binding	1
binding	1
catalytic activity	1
transferase activity	1
secretory granule	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum	1
sarcoplasm	1
endoplasmic reticulum membrane	1
mannosyltransferase complex	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1338 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POMT1	FKTN	O75072	986
POMT1	FKRP	Q9H9S5	986
POMT1	POMGNT1	Q8WZA1	986
POMT1	DAG1	Q14118	978
POMT1	POMT2	Q9UKY4	966
POMT1	LARGE1	O95461	875
POMT1	POMGNT2	Q8NAT1	874
POMT1	RXYLT1	Q9Y2B1	858
POMT1	B3GALNT2	Q8NCR0	855
POMT1	POMK	Q9H5K3	847
POMT1	LAMA2	P24043	809
POMT1	DPM3	Q9P2X0	805
POMT1	B4GAT1	O43505	802
POMT1	GMPPB	Q9Y5P6	796
POMT1	AGRN	O00468	795

IntAct

45 interactions, top by confidence:

A	B	Type	Score
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
PCDHB7	C2CD2L	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
TMPRSS12	FZD6	psi-mi:“MI:0914”(association)	0.530
GABRA3	HLA-C	psi-mi:“MI:0914”(association)	0.530
POMT1	POMT2	psi-mi:“MI:0915”(physical association)	0.460
POMT1	POMT2	psi-mi:“MI:0403”(colocalization)	0.460
	DENND11	psi-mi:“MI:0914”(association)	0.350
M	DENND11	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
NSDHL	ATP2A2	psi-mi:“MI:0914”(association)	0.350
PCDHA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
PCDHA8	TMEM223	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
ZDHHC12	NBAS	psi-mi:“MI:0914”(association)	0.350
MPPE1	FAM234B	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
PCDHB6	KLRG2	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
RFTN2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
HTR3C	GET1	psi-mi:“MI:0914”(association)	0.350
SLC3A2	GET1	psi-mi:“MI:0914”(association)	0.350
HFE	PODXL	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
CD1E	ADAM10	psi-mi:“MI:0914”(association)	0.350
APOC3	EMC8	psi-mi:“MI:0914”(association)	0.350

BioGRID (92): POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), POMT1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8C2M425, A1L1J9, B0BNG2, O60725, O75908, O77759, O88269, O88908, O95255, Q0P4J9, Q290J8, Q3T1L5, Q3TAE8, Q3UV71, Q499P8, Q49LS7, Q4R4E1, Q4VV71, Q5F380, Q5KR61, Q5R8F6, Q5RAH7, Q5RKL5, Q6AZ83, Q6NVG1, Q7SXZ1, Q7T310, Q7TPN3, Q7TQM4, Q86VD9, Q8AVI9, Q8BTP0, Q8C0T0, Q8C3X8, Q8CI59, Q8IUR5, Q8K2A8, Q8L638, Q8R1J1, Q8R4P9

Diamond homologs: F1Q8R9, F1QF89, O13898, O74189, P31382, P33775, P42934, P46971, P47190, P52867, Q29IL2, Q2LZ62, Q3SZ45, Q54P23, Q59X23, Q5A688, Q5ACU3, Q5ADM9, Q8BGQ4, Q8R2R1, Q93ZE8, Q99470, Q99PR0, Q9C100, Q9DCT5, Q9UKY4, Q9VTK2, Q9W5D4, Q9Y6A1, O42933, Q9ESP1, Q3T083, Q9HCN8, A0R3E8, L8F4Z2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POMT1	“form complex”	POMT	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 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.

GO biological processes:

GO term	Partners	Fold	FDR
monoatomic ion transmembrane transport	6	19.5×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

1307 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	94
Likely pathogenic	68
Uncertain significance	426
Likely benign	466
Benign	72

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1067618	NM_001077365.2(POMT1):c.427+1G>A	Pathogenic
1075349	NM_001077365.2(POMT1):c.1204dup (p.His402fs)	Pathogenic
1076965	NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)	Pathogenic
1120088	NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)	Pathogenic
1192212	NM_001077365.2(POMT1):c.1272+1G>A	Pathogenic
1252077	NM_001077365.2(POMT1):c.1175+3del	Pathogenic
1323488	NM_001077365.2(POMT1):c.1158del (p.Thr387fs)	Pathogenic
1323489	NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)	Pathogenic
1359283	NM_001077365.2(POMT1):c.859_871del (p.Gly287fs)	Pathogenic
1364191	NM_001077365.2(POMT1):c.58dup (p.Val20fs)	Pathogenic
1451349	NM_001077365.2(POMT1):c.72del (p.Met25fs)	Pathogenic
1470886	NM_001077365.2(POMT1):c.605+1G>T	Pathogenic
1516923	NC_000009.11:g.(?134389752)(134390863_?)del	Pathogenic
162594	NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter)	Pathogenic
1696829	NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)	Pathogenic
1696831	NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs)	Pathogenic
1930280	NM_001077365.2(POMT1):c.720del (p.Leu240fs)	Pathogenic
194859	NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)	Pathogenic
1997263	NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)	Pathogenic
1998900	NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)	Pathogenic
1998907	NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)	Pathogenic
2020409	NM_001077365.2(POMT1):c.145del (p.Gln49fs)	Pathogenic
2062446	NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)	Pathogenic
212739	NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)	Pathogenic
2229059	NM_001077365.2(POMT1):c.633C>A (p.Tyr211Ter)	Pathogenic
2413915	NM_001077365.2(POMT1):c.385del (p.Ser129fs)	Pathogenic
2677995	NM_001077365.2(POMT1):c.291del (p.Ser97fs)	Pathogenic
2678001	NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)	Pathogenic
2678012	NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)	Pathogenic
280761	NM_001077365.2(POMT1):c.2113_2114dup (p.Pro706fs)	Pathogenic

SpliceAI

3694 predictions. Top by Δscore:

Variant	Effect	Δscore
9:131503119:G:T	donor_gain	1.0000
9:131504336:GTGGT:G	donor_gain	1.0000
9:131504339:GT:G	donor_gain	1.0000
9:131504341:G:GG	donor_gain	1.0000
9:131504346:C:G	donor_gain	1.0000
9:131506236:A:T	donor_gain	1.0000
9:131506401:A:AG	acceptor_gain	1.0000
9:131506401:A:AT	acceptor_loss	1.0000
9:131506401:AG:A	acceptor_gain	1.0000
9:131506402:G:GA	acceptor_gain	1.0000
9:131506402:GG:G	acceptor_gain	1.0000
9:131506402:GGTT:G	acceptor_gain	1.0000
9:131506638:A:T	donor_gain	1.0000
9:131508903:T:TA	acceptor_gain	1.0000
9:131508908:CA:C	acceptor_loss	1.0000
9:131508909:A:AG	acceptor_gain	1.0000
9:131508909:A:AT	acceptor_loss	1.0000
9:131508910:G:GG	acceptor_gain	1.0000
9:131508910:GA:G	acceptor_gain	1.0000
9:131508910:GAGA:G	acceptor_gain	1.0000
9:131508910:GAGAA:G	acceptor_gain	1.0000
9:131509018:CACAG:C	donor_loss	1.0000
9:131509019:ACAGG:A	donor_loss	1.0000
9:131509021:AGGTA:A	donor_loss	1.0000
9:131509024:T:G	donor_loss	1.0000
9:131510258:A:C	acceptor_loss	1.0000
9:131510259:GGTCT:G	acceptor_gain	1.0000
9:131510413:GAG:G	donor_gain	1.0000
9:131510414:AGGTA:A	donor_loss	1.0000
9:131510416:G:GG	donor_gain	1.0000

AlphaMissense

4715 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:131506115:T:C	F42L	0.998
9:131506117:T:A	F42L	0.998
9:131506117:T:G	F42L	0.998
9:131511388:T:C	S325P	0.998
9:131512086:T:G	C366W	0.998
9:131512110:C:A	N374K	0.998
9:131512110:C:G	N374K	0.998
9:131512114:T:A	W376R	0.998
9:131512114:T:C	W376R	0.998
9:131515474:C:G	C430W	0.998
9:131515514:T:A	W444R	0.998
9:131515514:T:C	W444R	0.998
9:131511439:C:G	H342D	0.997
9:131512116:G:C	W376C	0.997
9:131512116:G:T	W376C	0.997
9:131518478:T:A	W458R	0.997
9:131518478:T:C	W458R	0.997
9:131518927:T:A	W508R	0.997
9:131518927:T:C	W508R	0.997
9:131522139:T:C	F662L	0.997
9:131522141:C:A	F662L	0.997
9:131522141:C:G	F662L	0.997
9:131511395:T:A	V327D	0.996
9:131511437:T:A	L341H	0.996
9:131511442:T:C	S343P	0.996
9:131511443:C:T	S343F	0.996
9:131515516:G:C	W444C	0.996
9:131515516:G:T	W444C	0.996
9:131521369:C:A	N596K	0.996
9:131521369:C:G	N596K	0.996

dbSNP variants (sampled 300 via entrez): RS1000022900 (9:131514228 G>A), RS1000035954 (9:131504799 G>C), RS1000174991 (9:131519509 TG>T), RS1000176985 (9:131510973 G>A,C), RS1000296937 (9:131516224 C>G,T), RS1000395946 (9:131521032 G>A), RS1000404385 (9:131520777 C>T), RS1001093763 (9:131502629 T>A,G), RS1001441814 (9:131506312 C>A,G), RS1001483698 (9:131505714 C>G), RS1001616712 (9:131514814 G>C,T), RS1001706684 (9:131516607 G>A), RS1001748795 (9:131516900 C>T), RS1001900403 (9:131521616 T>C,G), RS1002499531 (9:131515061 C>T)

Disease associations

OMIM: gene MIM:607423 | disease phenotypes: MIM:236670, MIM:609308, MIM:613155, MIM:253600, MIM:616094

GenCC curated gene-disease

Disease	Classification	Inheritance
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Definitive	Autosomal recessive
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Strong	Autosomal recessive
myopathy caused by variation in POMT1	Strong	Autosomal recessive
congenital muscular dystrophy with cerebellar involvement	Supportive	Autosomal recessive
congenital muscular dystrophy with intellectual disability	Supportive	Autosomal recessive
congenital muscular dystrophy without intellectual disability	Supportive	Autosomal recessive
muscle-eye-brain disease	Supportive	Autosomal recessive
autosomal recessive limb-girdle muscular dystrophy type 2K	Supportive	Autosomal recessive
muscular dystrophy-dystroglycanopathy, type A	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
myopathy caused by variation in POMT1	Definitive	AR

Mondo (19): muscular dystrophy-dystroglycanopathy, type A (MONDO:0000171), autosomal recessive limb-girdle muscular dystrophy type 2K (MONDO:0012248), muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 (MONDO:0013159), muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MONDO:0009364), autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), congenital muscular dystrophy (MONDO:0019950), pyridoxine-dependent epilepsy (MONDO:0009945), congenital nervous system disorder (MONDO:0002320), muscular dystrophy-dystroglycanopathy, type C (MONDO:0000173), cerebellar ataxia (MONDO:0000437), sensory peripheral neuropathy (MONDO:0002321), hearing loss disorder (MONDO:0005365), myopathy caused by variation in POMT1 (MONDO:0700070), limb-girdle muscular dystrophy due to POMK deficiency (MONDO:0014489), intellectual disability (MONDO:0001071)

Orphanet (9): POMT1-related limb-girdle muscular dystrophy R11 (Orphanet:86812), Walker-Warburg syndrome (Orphanet:899), Muscle-eye-brain disease (Orphanet:588), Autosomal recessive limb-girdle muscular dystrophy (Orphanet:102015), Congenital muscular dystrophy (Orphanet:97242), Pyridoxine-dependent-developmental and epileptic encephalopathy (Orphanet:3006), Rare ataxia (Orphanet:102002), Limb-girdle muscular dystrophy due to POMK deficiency (Orphanet:445110), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

201 total (30 of 201 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000050	Hypoplastic male external genitalia
HP:0000054	Micropenis
HP:0000110	Renal dysplasia
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000204	Cleft upper lip
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000298	Mask-like facies
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000411	Protruding ear
HP:0000413	Atresia of the external auditory canal
HP:0000478	Abnormality of the eye
HP:0000482	Microcornea
HP:0000485	Megalocornea
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000525	Abnormality iris morphology
HP:0000528	Anophthalmia

GWAS associations

0 associations (top):

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D058494	Walker-Warburg Syndrome	C10.500.507.450.499.249.500; C11.270.881; C16.131.666.507.450.499.249.500; C16.320.577.750
C538640	Limb-girdle muscular dystrophy autosomal recessive (supp.)
C536254	Pyridoxine-dependent epilepsy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment, decreases expression	2
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
Temozolomide	increases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants	increases abundance, increases oxidation, affects cotreatment, decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Dactinomycin	increases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Smoke	decreases expression	1
Valproic Acid	decreases expression	1
Vanadates	decreases expression	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	decreases expression	1
Volatile Organic Compounds	affects cotreatment, decreases expression, increases oxidation	1

Cellosaurus cell lines

5 cell lines: 4 cancer cell line, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2H7	HAP1 POMT1 (-) 3	Cancer cell line	Male
CVCL_E2H8	HAP1 POMT1 (-) 4	Cancer cell line	Male
CVCL_JF24	GM23363	Finite cell line	Female
CVCL_TF20	HAP1 POMT1 (-) 1	Cancer cell line	Male
CVCL_TF21	HAP1 POMT1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01422200	PHASE4	COMPLETED	Flu Vaccine Study in Neuromuscular Patients 2011
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
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
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
NCT01526564	PHASE3	COMPLETED	Clinical Study on Acetyl-L-Carnitine
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00034242	PHASE2	COMPLETED	High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration
NCT00202397	PHASE2	COMPLETED	Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia
NCT00863538	PHASE2	COMPLETED	Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01004016	PHASE2	COMPLETED	A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01350440	PHASE2	COMPLETED	Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia
NCT02540655	PHASE2	COMPLETED	Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia
NCT03932669	PHASE2	COMPLETED	Effect of Nilotinib in Cerebellar Ataxia Patients
NCT04301284	PHASE2	WITHDRAWN	Study of CAD-1883 for Spinocerebellar Ataxia
NCT05125666	PHASE2	UNKNOWN	Efficacy of Dual Task Training on Children With Ataxia After Medulloblastoma Resection
NCT06397274	PHASE2	NOT_YET_RECRUITING	Stemchymal® for Polyglutamine Spinocerebellar Ataxia
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)