FKRP

Summary

FKRP (fukutin related protein, HGNC:17997) is a protein-coding gene on chromosome 19q13.32, encoding Ribitol 5-phosphate transferase FKRP (Q9H9S5). Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate struct….

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Source: NCBI Gene 79147 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopathy caused by variation in FKRP (Definitive, ClinGen) — +9 more curated relationships
• Clinical variants (ClinVar): 1,250 total — 87 pathogenic, 87 likely-pathogenic
• Phenotypes (HPO): 201
• MANE Select transcript: NM_024301

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17997
Approved symbol	FKRP
Name	fukutin related protein
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	LGMD2I, MDC1C, FKTR
Ensembl gene	ENSG00000181027
Ensembl biotype	protein_coding
OMIM	606596
Entrez	79147

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 33 protein_coding, 7 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000318584, ENST00000391909, ENST00000593800, ENST00000593875, ENST00000593877, ENST00000593902, ENST00000593995, ENST00000594467, ENST00000595570, ENST00000595868, ENST00000596460, ENST00000596974, ENST00000597313, ENST00000597339, ENST00000597403, ENST00000598271, ENST00000600005, ENST00000600227, ENST00000600629, ENST00000600646, ENST00000600681, ENST00000600834, ENST00000600872, ENST00000600977, ENST00000601299, ENST00000602181, ENST00000602250, ENST00000908841, ENST00000908842, ENST00000908843, ENST00000908844, ENST00000908845, ENST00000908846, ENST00000929288, ENST00000929289, ENST00000929290, ENST00000929291, ENST00000962124, ENST00000962125, ENST00000962126, ENST00000962127

RefSeq mRNA: 2 — MANE Select: NM_024301 NM_001039885, NM_024301

CCDS: CCDS12691

Canonical transcript exons

ENST00000318584 — 4 exons

Exon	Start	End
ENSE00001219421	46748515	46748665
ENSE00001219430	46748027	46748088
ENSE00003016176	46755412	46758575
ENSE00003169980	46746057	46746090

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 91.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.9318 / max 54.2742, expressed in 1773 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176602	7.9318	1773

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	91.41	silver quality
cardiac muscle of right atrium	UBERON:0003379	90.69	silver quality
hindlimb stylopod muscle	UBERON:0004252	87.63	gold quality
sural nerve	UBERON:0015488	86.69	gold quality
apex of heart	UBERON:0002098	86.67	gold quality
gastrocnemius	UBERON:0001388	86.48	gold quality
muscle of leg	UBERON:0001383	86.18	gold quality
left uterine tube	UBERON:0001303	85.70	gold quality
adenohypophysis	UBERON:0002196	85.41	gold quality
heart left ventricle	UBERON:0002084	85.27	gold quality
right coronary artery	UBERON:0001625	85.09	gold quality
cardiac ventricle	UBERON:0002082	85.09	gold quality
pituitary gland	UBERON:0000007	85.07	gold quality
stromal cell of endometrium	CL:0002255	85.01	gold quality
tibialis anterior	UBERON:0001385	84.87	silver quality
popliteal artery	UBERON:0002250	84.45	gold quality
tibial artery	UBERON:0007610	84.45	gold quality
granulocyte	CL:0000094	84.36	gold quality
cardiac atrium	UBERON:0002081	84.29	gold quality
body of uterus	UBERON:0009853	84.16	gold quality
right atrium auricular region	UBERON:0006631	84.05	gold quality
left coronary artery	UBERON:0001626	84.04	gold quality
heart	UBERON:0000948	83.97	gold quality
metanephros cortex	UBERON:0010533	83.81	gold quality
lower esophagus	UBERON:0013473	83.78	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.78	gold quality
coronary artery	UBERON:0001621	83.76	gold quality
left ovary	UBERON:0002119	83.76	gold quality
aorta	UBERON:0000947	83.75	gold quality
right ovary	UBERON:0002118	83.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

44 targeting FKRP, 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-4455	100.00	65.48	1587
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-2276-3P	98.76	67.75	1384
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-3184-5P	98.56	67.13	1491

Literature-anchored findings (GeneRIF, showing 40)

• Limb girdle muscular dystrophy 2I is a milder allelic variant of MDC1C. (PMID:11741828)
• FKRP mutations can result in muscular dystrophy with mental retardation & cerebellar cysts, adding structural brain defects to the FKRP mutation spectrum. Depletion of alpha-dystroglycan expression suggests FKRP involvement in its processing. (PMID:12654965)
• patients with mutations in the fukutin-related protein (FKPR) gene had congenital muscular dystrophy (PMID:12666124)
• particular FKRP mutations in the homozygous state induce structural and clinical neurological lesions in addition to muscular dystrophy (PMID:14652796)
• Data suggest that fukutin and fukutin-related protein (FKRP) may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis. (PMID:15213246)
• pathogenesis of congenital muscular dystrophies, severity is related to ability to transport protein to ER (PMID:15574464)
• a type of LGMD in the Hutterite population maps to chromosome 19q31-q33 and is due to homozygosity for the L276I mutation in FKRP. (PMID:15580560)
• Three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy have C826A Fukutin-related protein mutation. (PMID:15833432)
• A FKRP point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I. (PMID:15883334)
• Retention in the endoplasmic reticulum of FKRP is not the main mechanism of disease; this may instead relate to a disruption of the functional activity of this putative enzyme with its substrate(s) in the Golgi. (PMID:16055117)
• FKRP mutations are a frequent cause of limb-girdle muscular dystrophies. The degree of respiratory and cardiac insufficiency in patients did not correlate with the severity of muscle involvement. (PMID:16344347)
• A novel FKRP gene((c.823C>T (p.R275C) and c.948delC)mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I (PMID:17055682)
• We report a limb-girdle muscular dystrophy 2I family with three affected sisters and a highly variable clinical course. FKRP gene sequencing showed that all three sisters carried a nonsense paternal mutation (W225X). (PMID:17113772)
• two unrelated Mexican children with congenital muscular dystrophy who each have the identical, novel 1387A>G, N463D mutation. (PMID:17336067)
• 3 new FKRP mutations were identified: L322V, L489R and R275G. (PMID:17351538)
• Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene (FKRP). (PMID:17446099)
• The unfolded protein response is activated in LGMD2I muscle biopsies in limb girdle muscular dystrophy type 2I. (PMID:17952692)
• severe dilated cardiomyopathy requiring heart transplantation in a homozygous p.Leu276Ile mutation in Fukutin-related protein gene (FKRP) (PMID:18060779)
• findings detected a homozygous mutation of the FKRP gene (826C>A) in two unrelated patients with limb-girdle muscular dystrophy 2I with necrotic myopathy with numerous rimmed vacuoles (PMID:18593008)
• In our population of LGMD2I patients, different mutations in the FKRP gene are associated with several secondary muscle protein reductions, and the deficiencies of alpha2-laminin and alpha-DG on sections are prevalent. (PMID:18645206)
• Data show that four sibs belonging to a second Tunisian LGMD2I family show variable cardiac involvement with FKRP gene mutations. (PMID:18671187)
• our study confirms that typical clinical symptoms (calf hypertrophy, cardiac involvement, mild LGMD) of LGMD2I due the homozygous c.826C[A mutation, are rather frequent in Germany (PMID:19820980)
• Alteration of the secretion pathway by different mutations may contribute to wide variations in phenotypes associated with FKRP-related diseases such as muscular dystrophy. (PMID:19900540)
• mutation spectrum associted with limb-girdle muscular dystrophy variability and serverity (PMID:19917824)
• Co-injection of fish or human FKRP mRNA along with the morpholino restored normal development and alpha-dystroglycan glycosylation. (PMID:19955119)
• two siblings carrying a homozygous mutation in the start codon of FKRP that is likely to result in a loss of functional FKRP protein. The clinical phenotype of the patients was consistent with Walker-Warburg syndrome (PMID:20236121)
• This study identified FKRP mutations on both alleles in 88 patients from 69 families with Limb Girdle Muscular Dystrophy Type 2I. (PMID:20961759)
• Study revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c.826 C>A (p.Leu276Ile) mutation. (PMID:21172462)
• Two novel heterozygous mutations (c.208T>A and c.1030G>T) in the FKRP gene were identified in Chinese brothers with progressive shoulder and pelvic muscle weakness (PMID:21296577)
• Mutations in FKRP lead to a glycosylation defect and subsequently downregulation of alpha-dystroglycan which constitutes an essential component of the proteoglycan-dystrophin complex. (PMID:21311896)
• FKRP co-localises with the middle-to-trans-Golgi marker MG160, between the myofibrils in human rectus femoris muscle fibres. (PMID:21886772)
• This study demonistrated that the higher frequency of LGMD2I with cardiomyopathy in mutation of FKRP in Taiwanese patients. (PMID:23800702)
• This provide a new mouse model of Limb-Girdle Muscular Dystrophy Type 2I homozygous for the Common L276I Mutation. (PMID:26574668)
• Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. (PMID:26810512)
• Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol. (PMID:26923585)
• The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRP mutations. (PMID:27439679)
• Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice (PMID:27711214)
• This study have demonstrated that the clinical heterogeneity in LGMD2I patients, homozygous for FKRP c.826C>A, cannot be explained by histopathological alterations, levels of alpha-DG hypoglycosylation or laminin alpha2 depletion. (PMID:28479227)
• Next generation and Sanger sequencing were performed for I-2. Heterozygous FKRP mutations were identified in exon 4: c.1167_1168delGC, p.Gly391Leufs *72 and c.501_502GT>CC, p.Arg167Ser, p.Cys168Arg (PMID:28629604)
• This literature review revealed that pathogenic mutations in the FKRP gene in Asian LGMD2I patients are compound heterozygous rather than homozygous. (PMID:28931339)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fkrp	ENSDARG00000100467
mus_musculus	Fkrp	ENSMUSG00000048920
rattus_norvegicus	Fkrp	ENSRNOG00000016055
drosophila_melanogaster	CG15651	FBGN0034567

Protein

Protein identifiers

Ribitol 5-phosphate transferase FKRP — Q9H9S5 (reviewed: Q9H9S5)

Alternative names: Fukutin-related protein, Ribitol-5-phosphate transferase

All UniProt accessions (17): Q9H9S5, M0QX03, M0QXT8, M0QYR2, M0QYV4, M0QYV8, M0QZ46, M0QZ68, M0R005, M0R016, M0R092, M0R0G0, M0R112, M0R1M1, M0R274, M0R2U3, M0R342

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1.

Subunit / interactions. Homodimer; disulfide-linked. Tetramer. Forms a complex composed of FKRP, FKTN/fukutin, and RXYLT1/TMEM5. Also exists as large multimeric protein complexes. May interact with the dystrophin-glycoprotein complex (DGC).

Subcellular location. Golgi apparatus membrane. Secreted. Cell membrane. Sarcolemma. Rough endoplasmic reticulum. Cytoplasm.

Tissue specificity. Expressed in the retina (at protein level). Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver, kidney, and pancreas.

Post-translational modifications. N-glycosylated.

Disease relevance. Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153] 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 congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612] A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements. The disease is caused by variants affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155] An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the LicD transferase family.

RefSeq proteins (2): NP_001034974, NP_077277* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007074	LicD/FKTN/FKRP_NTP_transf	Domain
IPR052613	LicD_transferase	Family
IPR055105	FKRP_N	Domain

Pfam: PF04991, PF22921

Catalyzed reactions (Rhea), 1 shown:

• 3-O-[Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + CDP-L-ribitol = 3-O-[Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein] + CMP + H(+) (RHEA:39867)

UniProt features (101 total): sequence variant 34, strand 23, helix 15, binding site 12, mutagenesis site 5, turn 3, topological domain 2, glycosylation site 2, disulfide bond 2, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
6KAK	X-RAY DIFFRACTION	2.06
6KAJ	X-RAY DIFFRACTION	2.22
6L7U	X-RAY DIFFRACTION	2.24
6KAN	X-RAY DIFFRACTION	2.25
6L7S	X-RAY DIFFRACTION	2.41
6L7T	X-RAY DIFFRACTION	2.41
6KAM	X-RAY DIFFRACTION	2.46
6KAL	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H9S5-F1	94.08	0.86

Functional residue map

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

Ligand- & substrate-binding residues (12): 352; 359–364; 360; 362; 364; 437–438; 480–482; 289; 296; 317; 318; 345

Disulfide bonds (2): 6, 168–191

Glycosylation sites (2): 172, 209

Mutagenesis-validated functional residues (5):

Position	Phenotype
88	affects the tetramer assembly. decreases the ribitol-5-phosphate transferase activity of about 80%.
360	does not affect protein expression. loss of ribitol-5-phosphate transferase activity.
362	decrease in ribitol-5-phosphate transferase activity. does not affect protein expression. loss of ribitol-5-phosphate tr
364	does not affect protein expression. loss of ribitol-5-phosphate transferase activity.
416	does not affect protein expression. loss of ribitol-5-phosphate transferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9939291	Matriglycan biosynthesis on DAG1

MSigDB gene sets: 552 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_SKELETAL_MUSCLE_TISSUE_REGENERATION, GOBP_BEHAVIOR, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_ADULT_BEHAVIOR, GOBP_POLYOL_METABOLIC_PROCESS, GOBP_GROWTH, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, AREB6_01, GOBP_RESPIRATORY_SYSTEM_PROCESS

GO Biological Process (51): in utero embryonic development (GO:0001701), neuron migration (GO:0001764), heart morphogenesis (GO:0003007), respiratory system process (GO:0003016), glycolytic process (GO:0006096), creatine metabolic process (GO:0006600), lipid metabolic process (GO:0006629), muscle contraction (GO:0006936), inflammatory response (GO:0006954), brain development (GO:0007420), adult walking behavior (GO:0007628), response to xenobiotic stimulus (GO:0009410), glial cell differentiation (GO:0010001), response to activity (GO:0014823), protein processing (GO:0016485), protein import (GO:0017038), pentose metabolic process (GO:0019321), pentitol metabolic process (GO:0019519), bone mineralization (GO:0030282), protein O-linked glycosylation via mannose (GO:0035269), maintenance of protein localization in endoplasmic reticulum (GO:0035437), filtration diaphragm assembly (GO:0036058), reelin-mediated signaling pathway (GO:0038026), camera-type eye development (GO:0043010), skeletal muscle tissue regeneration (GO:0043403), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), neuromuscular process (GO:0050905), protein tetramerization (GO:0051262), response to glucocorticoid (GO:0051384), localization of cell (GO:0051674), diaphragm development (GO:0060539), connective tissue development (GO:0061448), basement membrane organization (GO:0071711), oxygen metabolic process (GO:0072592), response to alcohol (GO:0097305), connective tissue replacement (GO:0097709), skeletal muscle fiber differentiation (GO:0098528), eye development (GO:0001654), obsolete protein glycosylation (GO:0006486), central nervous system development (GO:0007417)

GO Molecular Function (7): dystroglycan binding (GO:0002162), phosphotransferase activity, for other substituted phosphate groups (GO:0016780), identical protein binding (GO:0042802), laminin binding (GO:0043236), metal ion binding (GO:0046872), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (13): Golgi membrane (GO:0000139), obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), rough endoplasmic reticulum (GO:0005791), Golgi apparatus (GO:0005794), cytosol (GO:0005829), sarcolemma (GO:0042383), skeletal muscle myofibril (GO:0098723), extracellular region (GO:0005576), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
DAG1 glycosylations	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
protein binding	3
cytoplasm	3
endomembrane system	2
intracellular membrane-bounded organelle	2
chordate embryonic development	1
cell migration	1
generation of neurons	1
heart development	1
animal organ morphogenesis	1
system process	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
aerobic respiration	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
modified amino acid metabolic process	1
monocarboxylic acid metabolic process	1
primary metabolic process	1
muscle system process	1
defense response	1
central nervous system development	1
animal organ development	1
head development	1
adult locomotory behavior	1
walking behavior	1
response to chemical	1
cell differentiation	1
gliogenesis	1
response to stimulus	1
proteolysis	1

Protein interactions and networks

STRING

1280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FKRP	FKTN	O75072	988
FKRP	POMT2	Q9UKY4	986
FKRP	POMGNT1	Q8WZA1	986
FKRP	POMT1	Q9Y6A1	986
FKRP	DAG1	Q14118	978
FKRP	RXYLT1	Q9Y2B1	920
FKRP	LAMA2	P24043	912
FKRP	SGCA	Q16586	868
FKRP	SGCG	Q13326	867
FKRP	SGCB	Q16585	866
FKRP	LARGE1	O95461	864
FKRP	DYSF	O75923	863
FKRP	POMGNT2	Q8NAT1	862
FKRP	CAPN3	P20807	859
FKRP	ANO5	Q75V66	852
FKRP	TRIM32	Q13049	852

IntAct

85 interactions, top by confidence:

A	B	Type	Score
RXYLT1	FKTN	psi-mi:“MI:0915”(physical association)	0.710
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
ASPH	STXBP3	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
FKRP	FKRP	psi-mi:“MI:0407”(direct interaction)	0.620
SLC7A1	TMEM223	psi-mi:“MI:0914”(association)	0.530
SLC9A6	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.530
CD1B	TOR1B	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
ASGR2	MT-CO1	psi-mi:“MI:0914”(association)	0.530
LHFPL4	IFNA17	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
CSGALNACT2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
RHOT2	UBC	psi-mi:“MI:0914”(association)	0.530
ELANE	ITIH2	psi-mi:“MI:0914”(association)	0.530
SLC9A6	IFNGR1	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
SLC7A1	STXBP3	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
	FKRP	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (71): FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS), FKRP (Affinity Capture-MS)

ESM2 similar proteins: A2WX64, A2X933, A2XFT5, A2XFT6, A2XVC2, A2YH25, A2ZF66, A2ZHL0, A2ZI32, A2ZI41, B9FCV3, B9FKP6, C7J0P3, P06024, P09758, P17471, P30816, P52377, Q08101, Q0D3C8, Q10MK2, Q16842, Q2QXM3, Q2QXP0, Q2QYF3, Q2R2W8, Q4ADV8, Q53JI9, Q5CAZ6, Q5Z8N6, Q69XK5, Q6P768, Q6Z3Y6, Q6Z5M3, Q6ZFH6, Q6ZI01, Q75BD5, Q7FA29, Q7XTB2, Q8CG64

Diamond homologs: O75072, P14184, Q1RGU4, Q4UND5, Q60HG0, Q68W49, Q8CG64, Q8R507, Q9H9S5, Q9ZCN4, Q9ZCN5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FKRP	“form complex”	“Fukutin-FKRP-TMEM5 multienzyme complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 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
zinc ion transmembrane transport	6	56.2×	4e-07
intracellular zinc ion homeostasis	6	38.5×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

1250 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	87
Likely pathogenic	87
Uncertain significance	495
Likely benign	431
Benign	8

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071721	NC_000019.9:g.(?47258698)(47260205_?)del	Pathogenic
1071722	NC_000019.9:g.(?_47255735)_47259271del	Pathogenic
1072037	NM_024301.5(FKRP):c.919del (p.Tyr307fs)	Pathogenic
1072163	NM_024301.5(FKRP):c.1A>C (p.Met1Leu)	Pathogenic
1072170	NM_024301.5(FKRP):c.947_948insA (p.Cys317fs)	Pathogenic
1075782	NM_024301.5(FKRP):c.661dup (p.Ser221fs)	Pathogenic
1076575	NM_024301.5(FKRP):c.979dup (p.Arg327fs)	Pathogenic
120180	NM_024301.5(FKRP):c.1A>G (p.Met1Val)	Pathogenic
1322919	NM_024301.5(FKRP):c.939G>A (p.Trp313Ter)	Pathogenic
1358348	NM_024301.5(FKRP):c.998_1015del (p.Leu333_Val338del)	Pathogenic
1363219	NM_024301.5(FKRP):c.650dup (p.Val218fs)	Pathogenic
1376288	NM_024301.5(FKRP):c.1075del (p.Trp359fs)	Pathogenic
1378149	NM_024301.5(FKRP):c.1354del (p.Leu452fs)	Pathogenic
1395158	NM_024301.5(FKRP):c.1187dup (p.Ala397fs)	Pathogenic
1451632	NM_024301.5(FKRP):c.224del (p.Pro75fs)	Pathogenic
1452093	NM_024301.5(FKRP):c.779_785del (p.Glu260fs)	Pathogenic
1455089	NM_024301.5(FKRP):c.151G>T (p.Val51Phe)	Pathogenic
1459886	NC_000019.9:g.(?47255735)(47259270_?)del	Pathogenic
1487439	NM_024301.5(FKRP):c.877A>G (p.Thr293Ala)	Pathogenic
1929555	NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)	Pathogenic
1953025	NM_024301.5(FKRP):c.1100T>A (p.Ile367Asn)	Pathogenic
1963124	NM_024301.5(FKRP):c.985G>A (p.Val329Met)	Pathogenic
2013620	NM_024301.5(FKRP):c.142dup (p.Arg48fs)	Pathogenic
2017901	NM_024301.5(FKRP):c.722_791del (p.Ala241fs)	Pathogenic
2017951	NM_024301.5(FKRP):c.542_567del (p.Arg181fs)	Pathogenic
2023163	NM_024301.5(FKRP):c.897dup (p.Val300fs)	Pathogenic
2044049	NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)	Pathogenic
2124462	NM_024301.5(FKRP):c.835dup (p.Trp279fs)	Pathogenic
2138310	NM_024301.5(FKRP):c.447_451del (p.Ala150fs)	Pathogenic
2138311	NM_024301.5(FKRP):c.947_948del (p.Pro316fs)	Pathogenic

SpliceAI

893 predictions. Top by Δscore:

Variant	Effect	Δscore
19:46746087:GCGG:G	donor_gain	1.0000
19:46746144:CTCA:C	donor_loss	1.0000
19:46746145:TCA:T	donor_loss	1.0000
19:46746146:CACCT:C	donor_loss	1.0000
19:46746147:A:C	donor_loss	1.0000
19:46755409:CAG:C	acceptor_loss	1.0000
19:46755410:AG:A	acceptor_gain	1.0000
19:46755411:GG:G	acceptor_gain	1.0000
19:46755411:GGAT:G	acceptor_gain	1.0000
19:46775743:GGTCG:G	acceptor_gain	1.0000
19:46775745:TCG:T	acceptor_gain	1.0000
19:46775746:CG:C	acceptor_gain	1.0000
19:46775746:CGC:C	acceptor_gain	1.0000
19:46775747:GC:G	acceptor_loss	1.0000
19:46775748:C:CA	acceptor_loss	1.0000
19:46775748:C:CC	acceptor_gain	1.0000
19:46776968:CA:C	donor_gain	1.0000
19:46776973:A:AC	donor_gain	1.0000
19:46776973:AC:A	donor_loss	1.0000
19:46776974:C:CA	donor_gain	1.0000
19:46776974:CA:C	donor_gain	1.0000
19:46776974:CACT:C	donor_gain	1.0000
19:46776974:CACTA:C	donor_gain	1.0000
19:46746090:GGTGA:G	donor_loss	0.9900
19:46746091:G:A	donor_loss	0.9900
19:46746092:T:A	donor_loss	0.9900
19:46746147:A:AC	donor_gain	0.9900
19:46746148:C:CC	donor_gain	0.9900
19:46748633:GA:G	donor_gain	0.9900
19:46748635:G:GG	donor_gain	0.9900

AlphaMissense

3126 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:46756525:T:A	W359R	0.999
19:46756525:T:C	W359R	0.999
19:46756527:G:C	W359C	0.999
19:46756527:G:T	W359C	0.999
19:46756632:G:C	W394C	0.999
19:46756632:G:T	W394C	0.999
19:46755984:G:C	W178C	0.998
19:46755984:G:T	W178C	0.998
19:46756404:C:G	C318W	0.998
19:46756475:T:A	L342H	0.998
19:46756630:T:A	W394R	0.998
19:46756630:T:C	W394R	0.998
19:46756673:G:T	S408I	0.998
19:46756683:C:A	N411K	0.998
19:46756683:C:G	N411K	0.998
19:46756708:T:C	F420L	0.998
19:46756710:C:A	F420L	0.998
19:46756710:C:G	F420L	0.998
19:46756737:G:C	K429N	0.998
19:46756737:G:T	K429N	0.998
19:46756771:T:C	F441L	0.998
19:46756772:T:C	F441S	0.998
19:46756772:T:G	F441C	0.998
19:46756773:T:A	F441L	0.998
19:46756773:T:G	F441L	0.998
19:46756835:C:A	P462H	0.998
19:46756866:G:C	K472N	0.998
19:46756866:G:T	K472N	0.998
19:46756867:T:C	F473L	0.998
19:46756869:C:A	F473L	0.998

dbSNP variants (sampled 300 via entrez): RS1000011265 (19:46756955 C>T), RS1000125064 (19:46744016 C>T), RS1000326387 (19:46754091 C>G), RS1000676854 (19:46753784 G>A), RS1000823800 (19:46756189 C>A,G,T), RS1001045650 (19:46748238 C>T), RS1001848817 (19:46745911 A>C), RS1002042356 (19:46747089 G>A), RS1002046614 (19:46754556 C>G), RS1002221682 (19:46748180 T>A), RS1002593237 (19:46745870 C>T), RS1002620613 (19:46758673 G>A), RS1002796768 (19:46748534 G>A), RS1002884347 (19:46744690 C>G,T), RS1002958978 (19:46752005 A>G)

Disease associations

OMIM: gene MIM:606596 | disease phenotypes: MIM:236670, MIM:607155, MIM:606612, MIM:613153, MIM:253600, MIM:608634, MIM:618872, MIM:253800, MIM:615041

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal recessive limb-girdle muscular dystrophy type 2I	Definitive	Autosomal recessive
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Definitive	Autosomal recessive
muscular dystrophy-dystroglycanopathy type B5	Definitive	Autosomal recessive
muscular dystrophy-dystroglycanopathy	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
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 FKRP	Definitive	AR

Mondo (24): muscular dystrophy-dystroglycanopathy, type A (MONDO:0000171), autosomal recessive limb-girdle muscular dystrophy type 2I (MONDO:0011787), muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MONDO:0009364), muscular dystrophy-dystroglycanopathy type B5 (MONDO:0011688), muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 (MONDO:0013157), autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), cardiomyopathy (MONDO:0004994), dilated cardiomyopathy (MONDO:0005021), hypertrophic cardiomyopathy (MONDO:0005045), intellectual disability (MONDO:0001071), myopathy caused by variation in FKRP (MONDO:0700066), limb-girdle muscular dystrophy (MONDO:0016971), myopathy (MONDO:0005336), neuronopathy, distal hereditary motor, type 2B (MONDO:0012080), muscular dystrophy-dystroglycanopathy (MONDO:0018276)

Orphanet (14): FKRP-related limb-girdle muscular dystrophy R9 (Orphanet:34515), Walker-Warburg syndrome (Orphanet:899), Muscle-eye-brain disease (Orphanet:588), Autosomal recessive limb-girdle muscular dystrophy (Orphanet:102015), Rare cardiomyopathy (Orphanet:167848), Rare hypertrophic cardiomyopathy (Orphanet:217569), Dilated cardiomyopathy (Orphanet:217604), Limb-girdle muscular dystrophy (Orphanet:263), Distal hereditary motor neuropathy type 2 (Orphanet:139525), Congenital muscular dystrophy due to dystroglycanopathy (Orphanet:370953), Muscular dystrophy (Orphanet:98473), Congenital muscular dystrophy, Fukuyama type (Orphanet:272), Congenital muscular dystrophy type 1C (Orphanet:52428), 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:0000294	Low anterior hairline
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:0000525	Abnormality iris morphology
HP:0000528	Anophthalmia

GWAS associations

0 associations (top):

MeSH disease descriptors (11)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009136	Muscular Dystrophies	C05.651.534.500; C10.668.491.175.500; C16.320.577
D049288	Muscular Dystrophies, Limb-Girdle	C05.651.534.500.280; C10.668.491.175.500.149; C16.320.577.280
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.)
C564691	Muscular Dystrophy, Congenital, 1C (supp.)
C564612	Muscular Dystrophy, Limb-Girdle, Type 2I (supp.)
C567084	Neuronopathy, Distal Hereditary Motor, Type IIB (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Valproic Acid	affects expression, increases methylation	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenite	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
ferrous chloride	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
bisphenol S	decreases methylation	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Atrazine	decreases expression	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Doxorubicin	decreases expression	1
Gallic Acid	increases expression	1
Hydrogen Peroxide	affects expression	1
Nickel	increases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

5 cell lines: 2 finite cell line, 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_BX03	GM23630	Transformed cell line	Female
CVCL_BX13	GM23868	Finite cell line	Female
CVCL_BX20	GM24588	Finite cell line	Female
CVCL_SN65	HAP1 FKRP (-) 1	Cancer cell line	Male
CVCL_SN66	HAP1 FKRP (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT05775848	PHASE3	ACTIVE_NOT_RECRUITING	Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I)
NCT00170183	PHASE3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	PHASE3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	PHASE3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197	PHASE3	UNKNOWN	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321	PHASE3	UNKNOWN	VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028	PHASE3	COMPLETED	Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT01013714	PHASE3	UNKNOWN	Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827	PHASE3	COMPLETED	Implantable Cardioverter-Defibrillator Use in the VA System
NCT01648634	PHASE3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02924285	PHASE3	COMPLETED	Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935	PHASE3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331	PHASE3	COMPLETED	Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066	PHASE3	COMPLETED	Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT06158698	PHASE3	RECRUITING	CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895	PHASE3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086	PHASE3	RECRUITING	Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473	PHASE3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT04800874	PHASE2	ACTIVE_NOT_RECRUITING	Study of BBP-418 in Patients With LGMD2I
NCT00185250	PHASE2	COMPLETED	Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy