COL6A1

Summary

COL6A1 (collagen type VI alpha 1 chain, HGNC:2211) is a protein-coding gene on chromosome 21q22.3, encoding Collagen alpha-1(VI) chain (P12109). Collagen VI acts as a cell-binding protein.

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.

Source: NCBI Gene 1291 — RefSeq curated summary.

At a glance

• Gene–disease (curated): collagen 6-related myopathy (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 24
• Clinical variants (ClinVar): 2,136 total — 110 pathogenic, 59 likely-pathogenic
• Phenotypes (HPO): 119
• Druggable target: yes
• MANE Select transcript: NM_001848

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2211
Approved symbol	COL6A1
Name	collagen type VI alpha 1 chain
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000142156
Ensembl biotype	protein_coding
OMIM	120220
Entrez	1291

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 retained_intron, 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000361866, ENST00000463060, ENST00000466285, ENST00000486023, ENST00000492851, ENST00000498614, ENST00000612273, ENST00000682634, ENST00000683550, ENST00000866134

RefSeq mRNA: 1 — MANE Select: NM_001848 NM_001848

CCDS: CCDS13727

Canonical transcript exons

ENST00000361866 — 35 exons

Exon	Start	End
ENSE00000952543	45982634	45982763
ENSE00001436541	45981770	45981947
ENSE00002430903	45986944	45987072
ENSE00002442314	45989608	45989652
ENSE00002444369	45987155	45987175
ENSE00002446605	45990258	45990284
ENSE00002449732	45992748	45992810
ENSE00002450819	45990979	45991041
ENSE00002457874	45987499	45987519
ENSE00002459279	45997421	45997483
ENSE00002465494	45997700	45997762
ENSE00002468227	45986526	45986685
ENSE00002468467	45992164	45992217
ENSE00002470662	45994167	45994229
ENSE00002473380	45989084	45989137
ENSE00002477756	45990773	45990826
ENSE00002478448	45998121	45998171
ENSE00002483667	46000759	46000767
ENSE00002492838	45990378	45990422
ENSE00002494313	45992010	45992072
ENSE00002495880	45999657	45999692
ENSE00002500444	45992363	45992398
ENSE00002505064	45998398	45998433
ENSE00002514254	45989752	45989778
ENSE00002517632	45987610	45987654
ENSE00002519552	45999153	45999218
ENSE00002525270	45998897	45998959
ENSE00002693513	45984269	45984469
ENSE00003466321	46000331	46000367
ENSE00003560168	46002527	46002710
ENSE00003587026	46002218	46002401
ENSE00003606957	46003391	46005048
ENSE00003615014	46003120	46003149
ENSE00003665865	46001253	46001386
ENSE00003672421	46001961	46002070

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 446.6311 / max 6679.8979, expressed in 1570 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
189593	446.3799	1570
189622	0.2512	125

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.79	gold quality
tendon of biceps brachii	UBERON:0008188	99.73	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.70	gold quality
body of uterus	UBERON:0009853	99.69	gold quality
lower esophagus	UBERON:0013473	99.69	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.67	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.66	gold quality
left uterine tube	UBERON:0001303	99.65	gold quality
right ovary	UBERON:0002118	99.64	gold quality
saphenous vein	UBERON:0007318	99.64	gold quality
endocervix	UBERON:0000458	99.62	gold quality
skin of hip	UBERON:0001554	99.62	gold quality
right coronary artery	UBERON:0001625	99.61	gold quality
left ovary	UBERON:0002119	99.61	gold quality
myometrium	UBERON:0001296	99.58	gold quality
cartilage tissue	UBERON:0002418	99.58	gold quality
mucosa of stomach	UBERON:0001199	99.55	gold quality
urethra	UBERON:0000057	99.51	gold quality
ascending aorta	UBERON:0001496	99.51	gold quality
thoracic aorta	UBERON:0001515	99.51	gold quality
periodontal ligament	UBERON:0008266	99.51	gold quality
coronary artery	UBERON:0001621	99.50	gold quality
left coronary artery	UBERON:0001626	99.49	gold quality
descending thoracic aorta	UBERON:0002345	99.47	gold quality
pericardium	UBERON:0002407	99.47	gold quality
aorta	UBERON:0000947	99.43	gold quality
cardia of stomach	UBERON:0001162	99.43	gold quality
pylorus	UBERON:0001166	99.43	gold quality
upper leg skin	UBERON:0004262	99.41	gold quality
popliteal artery	UBERON:0002250	99.37	gold quality

Single-cell (SCXA)

Detected in 36 experiment(s), a significant marker in 33.

Experiment	Marker?	Max mean expression
E-HCAD-24	yes	3271.24
E-MTAB-8142	yes	3160.02
E-ANND-2	yes	2454.08
E-MTAB-6701	yes	2094.85
E-MTAB-9906	yes	1756.70
E-MTAB-8322	yes	1587.83
E-MTAB-7052	yes	1458.81
E-MTAB-10662	yes	841.19
E-GEOD-75688	yes	441.38
E-MTAB-7008	yes	401.76
E-MTAB-10287	yes	122.37
E-HCAD-1	yes	99.58
E-MTAB-8410	yes	74.46
E-HCAD-11	yes	50.74
E-HCAD-10	yes	46.74

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): JUN, SMAD3, SP1, SREBF1

miRNA regulators (miRDB)

45 targeting COL6A1, 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-4481	100.00	66.42	1669
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-1199-5P	98.44	66.51	829
HSA-MIR-4518	98.12	66.82	1030
HSA-MIR-218-2-3P	98.08	67.21	601
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-3665	97.73	65.08	975

Literature-anchored findings (GeneRIF, showing 40)

• COL6 genes encoding type VI collagen (PMID:11932968)
• keratinocyte growth factor (KGF), a key stimulator of epithelial cell proliferation during wound healing, preferentially binds to collagens I, III, and VI. (PMID:11973338)
• Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded (PMID:12011280)
• Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures caused by mutations in the COL6A1 gene. (PMID:12374585)
• Collagen VI deficiency might have caused electron microscopic changes of capillaries, while function of capillaries is apparently retained. (PMID:12736748)
• a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy (PMID:12840783)
• linkage disequilibrium and association studies that SNPs in the collagen 6A1 gene (COL6A1) were strongly associated with Ossification of the posterior longitudinal ligament (PMID:12958705)
• The failure of collagen VI to anchor the basal lamina to the interstitium is the cause of Ullrich disease. (PMID:14981181)
• dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD). (PMID:15563506)
• we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype. (PMID:16130093)
• COL6A1 could be responsible for the hyperostotic state, leading to ectopic bone formation in the spinal ligament. (PMID:16227896)
• beta ig-h3 can differentially modulate the aggregation of collagen VI with biglycan and decorin (PMID:16434404)
• Major promoter and enhancer sequences regulating COL6A1 expression are present in this bacterial artificial chromosome clone. (PMID:17334655)
• This study identified a novel homozygous COL6A1 premature termination mutation in a UCMD patient that causes nonsense-mediated mRNA decay. (PMID:17537636)
• This study demonstrates a homogeneous overexpression of the genes encoding for alpha1 and alpha2 chains for collagen type VI in nuchal skin of human trisomy 21 fetuses. (PMID:17602442)
• COL6A1 may be a common susceptibility gene for ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament in Chinese Han population. (PMID:18246005)
• Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3. (PMID:18366090)
• Immunofluorescent labeling of collagen VI in fibroblast cultures is a useful addition to current diagnostic services for Bethlem myopathy (BM). It can be used to guide molecular genetic testing in a cost-effective and time-saving manner. (PMID:18378883)
• Results found COL6A1 to be differentially expressed in human astrocytomas. (PMID:18551403)
• SNP of COL6A1 were not related to radiographic progression of ankylosing spondylitis. (PMID:18634150)
• These data indicate that collagen VI glycine mutations impair the assembly pathway in different ways and disease severity correlates with the assembly abnormality. (PMID:18825676)
• Four patients affected by Ullrich congenital muscular dystrophy and carrying unusual mutations of COL6 genes affecting RNA splicing, were identified. (PMID:19309692)
• This study revealed several genotype-phenotype correlations, providing new insights into the natural history and course of ColVI myopathies. (PMID:20976770)
• the accumulation of abnormal mitochondria and sarcoplasmic reticulum is caused by a defect of autophagy and that restoration of a proper autophagic flux in Col6a1-/- muscles ameliorates these alterations. (PMID:21037586)
• the COL6A1 rs35796750 TT genotype is associated with increased performance during the bicycling of the South African Ironman triathlon (PMID:22012643)
• TP-alpha, collagen alpha-1(VI) chain and S100A9 are potential biomarkers of esophageal squamous cell carcinoma, and may play an important role in tumorigenesis and development of ESCC. (PMID:22583932)
• COL3A1 rs1800255, COL6A1 rs35796750 and COL12A1 rs970547 were not significantly associated with sit-and-reach, straight leg raise or total shoulder rotation range of motion (PMID:23013106)
• XPD mutations in trichothiodystrophy hamper COL6A1 expression. (PMID:23221806)
• The resulting proposed clinical classification system of collagen VI-related myopathy is unique in that it is based on the integration of both motor function and pulmonary function criteria. (PMID:24271325)
• Absence of ANXA2 leads to retention of COL6 in a late-Golgi, VAMP2-positive compartment. (PMID:24357721)
• Mutations in each of the three collagen VI genes, COL6A1, COL6A2 and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review) (PMID:24443028)
• These results suggest that these SNPs of BMP-2 and COL6A1 may not directly influence the expression of OPLL. (PMID:24737472)
• In UCDM, 1 mutation was indentified in COL6A1 in Chinese patients. (PMID:24801232)
• The second main finding of this study was that COL6A1 rs35796750 did not associate with the risk of anterior cruciate ligament injury in the self-reported Caucasian South African cohort. (PMID:25073002)
• Data suggest the potential role of COL6 in promoting lung neoplasia in diseased lungs where COL6 is overexpressed. (PMID:25176343)
• Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. (PMID:25204870)
• Data indicate that collagen-VI-alpha-1 (COL6A1) is expressed in all grades of glioma. (PMID:25325876)
• worsening of the functional disability appeared typically after the age of 40 in 47% of our patients with Bethlem myopathy, and was frequently associated with COL6A1 exon 14 skipping (PMID:25535305)
• upregulated in the airways of chronic obstructive pulmonary disease patients and exposed upon epithelial desquamation (PMID:25925694)
• is the first report of UCMD recurrence in 2 siblings due to a germline mosaic COL6 gene mutation (PMID:25978941)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	col6a1	ENSDARG00000074908
mus_musculus	Col6a1	ENSMUSG00000001119
rattus_norvegicus	Col6a1	ENSRNOG00000001249

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL22A1 (ENSG00000169436), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)

Protein

Protein identifiers

Collagen alpha-1(VI) chain — P12109 (reviewed: P12109)

All UniProt accessions (4): P12109, A0A087X0S5, A0A384P5H7, A0A804HJ28

UniProt curated annotations — full annotation on UniProt →

Function. Collagen VI acts as a cell-binding protein.

Subunit / interactions. Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Disease relevance. Bethlem myopathy 1A (BTHLM1A) [MIM:158810] A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Ullrich congenital muscular dystrophy 1A (UCMD1A) [MIM:254090] A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the type VI collagen family.

RefSeq proteins (1): NP_001839* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR008160	Collagen	Repeat
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR050525	ECM_Assembly_Org	Family

Pfam: PF00092, PF01391

UniProt features (47 total): sequence variant 18, compositionally biased region 7, glycosylation site 5, sequence conflict 5, region of interest 4, short sequence motif 3, domain 3, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9GTU	ELECTRON MICROSCOPY	3.14

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12109-F1	71.28	0.30

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 (5): 212, 516, 537, 804, 896

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-1442490	Collagen degradation
R-HSA-1650814	Collagen biosynthesis and modifying enzymes
R-HSA-186797	Signaling by PDGF
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-216083	Integrin cell surface interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-419037	NCAM1 interactions
R-HSA-8948216	Collagen chain trimerization

MSigDB gene sets: 686 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_CIRCADIAN_RHYTHM, GOBP_SINGLE_FERTILIZATION, GOBP_MEMBRANE_DEPOLARIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_LUNG_EPITHELIUM_DEVELOPMENT, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_SKELETAL_MUSCLE_TISSUE_REGENERATION, GOBP_BEHAVIOR, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT

GO Biological Process (88): response to reactive oxygen species (GO:0000302), cell morphogenesis (GO:0000902), osteoblast differentiation (GO:0001649), hair follicle development (GO:0001942), reduction of food intake in response to dietary excess (GO:0002023), muscle system process (GO:0003012), respiratory system process (GO:0003016), glycolytic process (GO:0006096), tricarboxylic acid cycle (GO:0006099), 2-oxoglutarate metabolic process (GO:0006103), energy reserve metabolic process (GO:0006112), autophagy (GO:0006914), inflammatory response (GO:0006954), mitochondrion organization (GO:0007005), cell adhesion (GO:0007155), single fertilization (GO:0007338), heart development (GO:0007507), circadian rhythm (GO:0007623), insulin receptor signaling pathway (GO:0008286), regulation of cell size (GO:0008361), response to xenobiotic stimulus (GO:0009410), response to UV (GO:0009411), response to wounding (GO:0009611), response to mechanical stimulus (GO:0009612), response to toxic substance (GO:0009636), gene expression (GO:0010467), muscle cell apoptotic process (GO:0010657), response to muscle activity (GO:0014850), transmission of nerve impulse (GO:0019226), myelination in peripheral nervous system (GO:0022011), collagen fibril organization (GO:0030199), apoptotic nuclear changes (GO:0030262), bone mineralization (GO:0030282), response to lipopolysaccharide (GO:0032496), collagen metabolic process (GO:0032963), endodermal cell differentiation (GO:0035987), limb joint morphogenesis (GO:0036022), response to decreased oxygen levels (GO:0036293), skeletal muscle tissue regeneration (GO:0043403), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491)

GO Molecular Function (4): collagen binding (GO:0005518), extracellular matrix structural constituent conferring tensile strength (GO:0030020), platelet-derived growth factor binding (GO:0048407), protein binding (GO:0005515)

GO Cellular Component (17): extracellular region (GO:0005576), collagen type VI trimer (GO:0005589), basement membrane (GO:0005604), mitochondrion (GO:0005739), lysosomal membrane (GO:0005765), endoplasmic reticulum lumen (GO:0005788), membrane (GO:0016020), sarcoplasmic reticulum (GO:0016529), myofibril (GO:0030016), extracellular matrix (GO:0031012), protein-containing complex (GO:0032991), sarcolemma (GO:0042383), extracellular exosome (GO:0070062), intracellular vesicle (GO:0097708), collagen trimer (GO:0005581), lysosome (GO:0005764), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Collagen formation	2
Extracellular matrix organization	2
Degradation of the extracellular matrix	1
Signaling by Receptor Tyrosine Kinases	1
NCAM signaling for neurite out-growth	1
Collagen biosynthesis and modifying enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	3
system process	2
aerobic respiration	2
cellular anatomical structure	2
cytoplasm	2
endoplasmic reticulum	2
response to oxidative stress	1
response to oxygen-containing compound	1
anatomical structure morphogenesis	1
ossification	1
cell differentiation	1
hair cycle process	1
anatomical structure development	1
skin epidermis development	1
response to dietary excess	1
eating behavior	1
respiratory gaseous exchange by respiratory system	1
phosphoglycerate kinase activity	1
phosphoglycerate mutase activity	1
phosphopyruvate hydratase activity	1
pyruvate kinase activity	1
pyruvate metabolic process	1
generation of precursor metabolites and energy	1
carbohydrate catabolic process	1
pyridine nucleotide catabolic process	1
glyceraldehyde-3-phosphate dehydrogenase [NAD(P)+] (phosphorylating) activity	1
ADP catabolic process	1
ATP metabolic process	1
nicotinamide nucleotide metabolic process	1
primary metabolic process	1
dicarboxylic acid metabolic process	1
energy derivation by oxidation of organic compounds	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
defense response	1
organelle organization	1
cellular process	1
fertilization	1
animal organ development	1

Protein interactions and networks

STRING

2756 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL6A1	COL6A2	P12110	965
COL6A1	COL6A3	P12111	963
COL6A1	LAMB1	P07942	810
COL6A1	ITGA5	P08648	764
COL6A1	BGN	P13247	724
COL6A1	FN1	P02751	723
COL6A1	A0A087WVV2	A0A087WVV2	714
COL6A1	LAMA2	P24043	713
COL6A1	COL1A1	P02452	711
COL6A1	TNXB	P22105	703
COL6A1	PFKL	P17858	698
COL6A1	THBS4	P35443	665
COL6A1	COL5A2	P05997	662
COL6A1	LAMA5	O15230	652
COL6A1	PPIF	P30405	649

IntAct

158 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
MMP9	TIMP1	psi-mi:“MI:0914”(association)	0.640
AGRP	TK1	psi-mi:“MI:0914”(association)	0.640
MMP2	COL4A1	psi-mi:“MI:0914”(association)	0.640
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
WNT4	TOMM40	psi-mi:“MI:0914”(association)	0.530
WNT7A	LDLR	psi-mi:“MI:0914”(association)	0.530
	PLOD2	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
INSL5	COCH	psi-mi:“MI:0914”(association)	0.530
C1QTNF9B	PLOD3	psi-mi:“MI:0914”(association)	0.530
PLOD3	COL4A1	psi-mi:“MI:0914”(association)	0.530
PLOD3	PLOD2	psi-mi:“MI:0914”(association)	0.530
TIMP3	ZZEF1	psi-mi:“MI:0914”(association)	0.530
CNPY3	LRIG2	psi-mi:“MI:0914”(association)	0.530
GPIHBP1	ADAM10	psi-mi:“MI:0914”(association)	0.530
LAIR2	LAMA5	psi-mi:“MI:0914”(association)	0.530
LYZL6	COL6A1	psi-mi:“MI:0914”(association)	0.530

BioGRID (135): COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS)

ESM2 similar proteins: A2A863, A6H584, E1BMV3, P00751, P04186, P04412, P05099, P12106, P12109, P12110, P13944, P15988, P16144, P20785, P20849, P21941, P24043, P51942, P58335, P81187, P83371, P98085, Q02788, Q03710, Q04857, Q05722, Q07092, Q13219, Q2UY09, Q2UY11, Q60847, Q641F3, Q64632, Q6AYF4, Q6DFX2, Q6ZMI3, Q801S8, Q80WL1, Q864V9, Q864W0

Diamond homologs: A2AX52, A6H584, A6NMZ7, A8TX70, E7FF10, O00339, O08746, O35701, O42163, O43405, O75578, O89029, O95460, P05555, P12109, P12111, P13944, P15989, P18614, P20785, P32018, P34576, P56199, P61622, P61625, P84552, Q02388, Q05707, Q21281, Q21540, Q28902, Q3V3R4, Q5EA64, Q62507, Q63870, Q641F3, Q642A6, Q80X19, Q8C6K9, Q8NFW1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COL6A1	up-regulates	ECM_synthesis

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 174 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
Negative regulation of TCF-dependent signaling by WNT ligand antagonists	5	30.2×	4e-05
WNT ligand biogenesis and trafficking	7	25.1×	1e-06
Attachment of bacteria to epithelial cells	5	21.0×	2e-04
Collagen biosynthesis and modifying enzymes	12	17.3×	2e-09
MET activates PTK2 signaling	5	16.1×	5e-04
Collagen degradation	10	14.9×	3e-07
Assembly of collagen fibrils and other multimeric structures	8	13.6×	1e-05
Collagen chain trimerization	6	13.2×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of postsynapse organization	5	17.4×	2e-03
cell fate commitment	8	15.7×	3e-05
collagen fibril organization	9	13.4×	3e-05
extracellular matrix disassembly	5	12.1×	5e-03
cellular response to retinoic acid	6	9.3×	5e-03
canonical Wnt signaling pathway	9	9.1×	3e-04
positive regulation of MAPK cascade	10	5.3×	3e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	10	5.2×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2136 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	110
Likely pathogenic	59
Uncertain significance	550
Likely benign	672
Benign	206

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1072275	NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg)	Pathogenic
1073810	NM_001848.3(COL6A1):c.1738del (p.Gln580fs)	Pathogenic
1073927	NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter)	Pathogenic
1076562	NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg)	Pathogenic
1180683	NM_001848.3(COL6A1):c.1003-1G>C	Pathogenic
1299552	NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter)	Pathogenic
1322138	NM_001848.3(COL6A1):c.1056+1G>C	Pathogenic
1322140	NM_001848.3(COL6A1):c.904-1G>T	Pathogenic
1322141	NM_001848.3(COL6A1):c.1612-1G>A	Pathogenic
1374571	NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys)	Pathogenic
1375454	NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)	Pathogenic
1389428	NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs)	Pathogenic
1421511	NM_001848.3(COL6A1):c.958-2_958-1del	Pathogenic
1457047	NM_001848.3(COL6A1):c.50_51del (p.Thr17fs)	Pathogenic
1457711	NM_001848.3(COL6A1):c.739-2A>G	Pathogenic
1458790	NC_000021.8:g.(?47422287)(47423978_?)del	Pathogenic
1459415	NC_000021.8:g.(?47407403)(47407578_?)del	Pathogenic
1460048	NC_000021.8:g.(?47408988)(47410346_?)del	Pathogenic
1482996	NM_001848.3(COL6A1):c.1027_1056+76del	Pathogenic
17169	NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val)	Pathogenic
17170	NM_001848.3(COL6A1):c.931-1G>A	Pathogenic
17171	NM_001848.3(COL6A1):c.1056+2T>C	Pathogenic
17172	NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)	Pathogenic
17173	NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)	Pathogenic
17175	NM_001848.3(COL6A1):c.805-572_903+5delinsTCCCTCCCCATTTCC	Pathogenic
17176	NM_001848.3(COL6A1):c.428+1G>A	Pathogenic
17177	NM_001848.3(COL6A1):c.857del (p.Pro286fs)	Pathogenic
17178	NM_001848.3(COL6A1):c.1465del (p.Ala489fs)	Pathogenic
17179	NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter)	Pathogenic
17181	NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)	Pathogenic

SpliceAI

4535 predictions. Top by Δscore:

Variant	Effect	Δscore
21:45981946:GG:G	donor_gain	1.0000
21:45981947:GG:G	donor_gain	1.0000
21:45982627:C:A	acceptor_gain	1.0000
21:45982761:CAGG:C	donor_loss	1.0000
21:45982762:AGGT:A	donor_loss	1.0000
21:45982765:T:A	donor_loss	1.0000
21:45984263:T:TA	acceptor_gain	1.0000
21:45984265:GCA:G	acceptor_loss	1.0000
21:45984266:CAG:C	acceptor_loss	1.0000
21:45984400:TC:T	donor_gain	1.0000
21:45984465:GTGGG:G	donor_gain	1.0000
21:45984466:TGGG:T	donor_gain	1.0000
21:45984467:GGG:G	donor_gain	1.0000
21:45984467:GGGG:G	donor_gain	1.0000
21:45984468:GG:G	donor_gain	1.0000
21:45984468:GGG:G	donor_gain	1.0000
21:45984469:GG:G	donor_gain	1.0000
21:45984470:G:GG	donor_gain	1.0000
21:45986521:TCCA:T	acceptor_loss	1.0000
21:45986522:CCA:C	acceptor_loss	1.0000
21:45986523:CAG:C	acceptor_loss	1.0000
21:45986524:A:AC	acceptor_loss	1.0000
21:45986524:A:AG	acceptor_gain	1.0000
21:45986524:AG:A	acceptor_gain	1.0000
21:45986524:AGG:A	acceptor_gain	1.0000
21:45986525:G:A	acceptor_gain	1.0000
21:45986525:G:GT	acceptor_gain	1.0000
21:45986525:GGG:G	acceptor_gain	1.0000
21:45987122:A:T	donor_gain	1.0000
21:45987125:G:GG	donor_gain	1.0000

AlphaMissense

6646 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:45982670:C:T	S45F	1.000
21:45984297:T:A	W86R	1.000
21:45984297:T:C	W86R	1.000
21:45982636:T:C	C34R	0.999
21:45982649:T:C	L38P	0.999
21:45982663:G:C	D43H	0.999
21:45982664:A:C	D43A	0.999
21:45982664:A:T	D43V	0.999
21:45982669:T:C	S45P	0.999
21:45982670:C:A	S45Y	0.999
21:45982675:A:C	S47R	0.999
21:45982677:C:A	S47R	0.999
21:45982677:C:G	S47R	0.999
21:45984299:G:C	W86C	0.999
21:45984299:G:T	W86C	0.999
21:45984313:T:C	L91P	0.999
21:45984429:G:C	D130H	0.999
21:45984432:T:A	C131S	0.999
21:45984432:T:C	C131R	0.999
21:45984433:G:C	C131S	0.999
21:45984436:C:A	A132D	0.999
21:45984447:G:T	G136W	0.999
21:45986555:T:C	L153P	0.999
21:45986569:G:C	D158H	0.999
21:45986570:A:T	D158V	0.999
21:45986572:G:T	G159W	0.999
21:45986573:G:A	G159E	0.999
21:45986602:T:A	C169S	0.999
21:45986602:T:C	C169R	0.999
21:45986603:G:C	C169S	0.999

dbSNP variants (sampled 300 via entrez): RS1000009752 (21:45987291 T>C,G), RS1000078400 (21:45988839 G>A,T), RS1000217613 (21:45997023 C>T), RS1000326828 (21:45983448 G>A), RS1000328339 (21:46000932 C>A,T), RS1000332415 (21:46000274 A>C,G), RS1000361166 (21:45987445 A>G), RS1000608230 (21:45996118 T>A), RS1000844177 (21:46001116 T>C), RS1001020201 (21:45994735 G>A), RS1001023910 (21:45993481 C>A), RS1001192136 (21:46002158 T>C), RS1001261552 (21:46002959 G>A), RS1001274995 (21:46002875 C>T), RS1001292077 (21:46005458 G>A,C)

Disease associations

OMIM: gene MIM:120220 | disease phenotypes: MIM:158810, MIM:254090, MIM:620725, MIM:130000

GenCC curated gene-disease

Disease	Classification	Inheritance
Bethlem myopathy 1A	Definitive	Autosomal dominant
Ullrich congenital muscular dystrophy 1A	Strong	Autosomal dominant
Bethlem myopathy	Supportive	Autosomal dominant
Ullrich congenital muscular dystrophy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
collagen 6-related myopathy	Definitive	AD
collagen 6-related myopathy	Definitive	AR

Mondo (9): Bethlem myopathy 1A (MONDO:0024530), Ullrich congenital muscular dystrophy 1A (MONDO:0009681), collagen 6-related myopathy (MONDO:0100225), myopathy (MONDO:0005336), breast ductal adenocarcinoma (MONDO:0005590), Bethlem myopathy 1B (MONDO:0958233), Ehlers-Danlos syndrome (MONDO:0020066), Bethlem myopathy (MONDO:0008029), Ullrich congenital muscular dystrophy (MONDO:0000355)

Orphanet (3): Bethlem muscular dystrophy (Orphanet:610), Ullrich congenital muscular dystrophy (Orphanet:75840), Ehlers-Danlos syndrome (Orphanet:98249)

HPO phenotypes

119 total (30 of 119 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000093	Proteinuria
HP:0000174	Abnormal palate morphology
HP:0000218	High palate
HP:0000311	Round face
HP:0000347	Micrognathia
HP:0000411	Protruding ear
HP:0000467	Neck muscle weakness
HP:0000470	Short neck
HP:0000473	Torticollis
HP:0000565	Esotropia
HP:0000962	Hyperkeratosis
HP:0000975	Hyperhidrosis
HP:0000988	Skin rash
HP:0001073	Cigarette-paper scars
HP:0001181	Adducted thumb
HP:0001220	Interphalangeal joint contracture of finger
HP:0001238	Slender finger
HP:0001239	Wrist flexion contracture
HP:0001249	Intellectual disability
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001319	Neonatal hypotonia
HP:0001324	Muscle weakness
HP:0001371	Flexion contracture
HP:0001374	Congenital hip dislocation

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST003997_8	Myopia	5.000000e-13
GCST004063_105	Waist circumference adjusted for body mass index	1.000000e-07
GCST004063_158	Waist circumference adjusted for body mass index	4.000000e-08
GCST005170_24	Intraocular pressure	8.000000e-09
GCST005580_224	Intraocular pressure	3.000000e-19
GCST005783_2	Bone mineral density (lumbar spine) in inflammatory bowel disease	8.000000e-07
GCST006291_125	Spherical equivalent or myopia (age of diagnosis)	1.000000e-14
GCST006479_118	Diverticular disease	5.000000e-11
GCST006585_2533	Blood protein levels	4.000000e-33
GCST006626_18	Pulse pressure	2.000000e-09
GCST007269_3	Pulse pressure	3.000000e-10
GCST007829_5	Systolic blood pressure	1.000000e-07
GCST008276_8	Corneal resistance factor	1.000000e-11
GCST008315_2	Corneal hysteresis	1.000000e-07
GCST008318_4	Corneal resistance factor	2.000000e-10
GCST010002_78	Refractive error	2.000000e-36
GCST011390_13	Corneal resistance factor	1.000000e-101
GCST011391_11	Corneal hysteresis	8.000000e-98
GCST011494_105	Daytime nap	4.000000e-11
GCST012226_841	Waist circumference adjusted for body mass index	1.000000e-08
GCST012402_14	Low myopia	3.000000e-06
GCST90013442_35	Keratoconus	9.000000e-12
GCST90020029_165	Waist circumference adjusted for body mass index	4.000000e-09
GCST90020029_166	Waist circumference adjusted for body mass index	8.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0004695	intraocular pressure measurement
EFO:0007701	spine bone mineral density
EFO:0004847	age at onset
EFO:0009959	diverticular disease
EFO:0005763	pulse pressure measurement
EFO:0006944	systolic blood pressure change measurement
EFO:0010067	corneal resistance factor
EFO:0010066	corneal hysteresis
EFO:0007828	daytime rest measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D004535	Ehlers-Danlos Syndrome	C14.907.454.240; C15.378.463.515.240; C16.131.831.428; C16.320.850.260; C17.300.200.310; C17.800.804.428; C17.800.827.260
C535436	Bethlem myopathy (supp.)
C537521	Scleroatonic muscular dystrophy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2364188 (PROTEIN COMPLEX GROUP)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, affects cotreatment, decreases expression	3
trichostatin A	affects cotreatment, increases expression	3
bisphenol S	affects cotreatment, decreases methylation, increases expression, decreases expression	3
Valproic Acid	increases expression, increases methylation, affects expression	3
entinostat	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Estradiol	affects cotreatment, increases expression	2
Phenytoin	decreases expression, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Tretinoin	decreases expression	2
Isotretinoin	decreases expression, increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression	1
4-oxoretinoic acid	decreases expression	1
selenomethylselenocysteine	increases expression	1
testosterone enanthate	affects expression	1
methylselenic acid	increases expression	1
methylparaben	decreases expression	1
sodium arsenite	increases expression	1
pyrrolidine dithiocarbamic acid	affects cotreatment, decreases expression, decreases reaction	1
azelastine	decreases expression	1
tanshinone	decreases expression	1
manganese chloride	decreases expression, increases abundance	1
ochratoxin A	increases acetylation, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
celastrol	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
Y 27632	increases expression, decreases reaction	1

Cellosaurus cell lines

22 cell lines: 10 induced pluripotent stem cell, 7 transformed cell line, 4 finite cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_4T47	GM23330	Finite cell line	Male
CVCL_4T56	GM24221	Transformed cell line	Female
CVCL_4T70	GM24259	Finite cell line	Male
CVCL_4T71	GM24384	Finite cell line	Male
CVCL_4T73	GM24405	Finite cell line	Female
CVCL_4T74	GM24415	Transformed cell line	Male
CVCL_A2PX	GM27123	Transformed cell line	Female
CVCL_B2UT	Abcam HEK293T COL6A1 KO	Transformed cell line	Female
CVCL_D0Z7	HPS3209	Induced pluripotent stem cell	Male
CVCL_D0Z8	HPS3210	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT04890431	PHASE4	UNKNOWN	Impact of Oxygen Therapy on Fatigue in Patients With Hypermobile-type Ehlers-Danlos Syndrome
NCT05603741	PHASE4	ACTIVE_NOT_RECRUITING	Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT05279937	PHASE3	NOT_YET_RECRUITING	The Ultrasound-Guided Dextrose Prolotherapy in Ehlers-Danlos Syndrome Patients
NCT01438788	PHASE2	COMPLETED	Low Protein Diet in Patients With Collagen VI Related Myopathies
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00001966	PHASE2	COMPLETED	Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT04020159	Not specified	UNKNOWN	Global Registry for COL6-related Dystrophies
NCT01895283	Not specified	COMPLETED	The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular Dystrophy
NCT03693898	Not specified	UNKNOWN	MR in Patients With Collagen VI Related Myopathies
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT02124070	PHASE1/PHASE2	WITHDRAWN	Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
NCT00549029	Not specified	UNKNOWN	The Association of Genetic Polymorphisms With Statin-Induced Myopathy.
NCT00767130	Not specified	UNKNOWN	DNA Diagnostic System for Statin Safety and Efficacy
NCT00922428	Not specified	COMPLETED	PASCOE-Agil HOM-Injektopas in the Treatment of Rheumatic Disorders
NCT00937001	Not specified	ACTIVE_NOT_RECRUITING	Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness
NCT00990834	Not specified	WITHDRAWN	Muscle Characteristics Associated With Statin Therapy
NCT01022450	Not specified	UNKNOWN	Study of the Causes of the Breakdown of Muscle Fibers in Hospitalized Patients
NCT01040650	Not specified	TERMINATED	Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment
NCT01047163	Not specified	COMPLETED	Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
NCT01270269	Not specified	COMPLETED	ACT-ICU Study: Activity and Cognitive Therapy in the Intensive Care Unit
NCT01353430	Not specified	RECRUITING	Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD)
NCT01395563	Not specified	WITHDRAWN	Strength Training on Pancreatic Cancer
NCT01530841	Not specified	COMPLETED	Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy
NCT01547767	Not specified	COMPLETED	Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
NCT01702987	Not specified	COMPLETED	Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
NCT01790178	Not specified	COMPLETED	Ultrasound in Muscle Biopsy
NCT02011282	Not specified	COMPLETED	Electro-Neuro-Muscular Stimulation in ICU
NCT02104921	Not specified	COMPLETED	Innovative Ultrasound Technology in Neuromuscular Disease
NCT02118805	Not specified	COMPLETED	Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders
NCT02235220	Not specified	UNKNOWN	Reduction of Masticatory Muscle Activity by Restoring Canine Guidance
NCT02247895	Not specified	TERMINATED	Treatment of Muscle Weakness in Critically Ill Patients
NCT02315339	Not specified	TERMINATED	European Home Mechanical Ventilation Registry
NCT02442986	Not specified	COMPLETED	Neurological Outcome in Surgical and Non-surgical Septic Patients
NCT02706314	Not specified	COMPLETED	Impact of Human Blood Serum From Critically Ill Patients on Human Colon Neuronal Networks.