MYO5A

Summary

MYO5A (myosin VA, HGNC:7602) is a protein-coding gene on chromosome 15q21.2, encoding Unconventional myosin-Va (Q9Y4I1). Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament.

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1) and neuroectodermal melanolysosomal disease, or Elejalde disease.

Source: NCBI Gene 4644 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Griscelli syndrome type 1 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 534 total — 8 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 46
• Cancer driver (intOGen): activating (oncogene-like) across 4 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001382347

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7602
Approved symbol	MYO5A
Name	myosin VA
Location	15q21.2
Locus type	gene with protein product
Status	Approved
Aliases	MYO5, GS1, MYR12
Ensembl gene	ENSG00000197535
Ensembl biotype	protein_coding
OMIM	160777
Entrez	4644

Gene structure

Transcript identifiers

Ensembl transcripts: 51 — 21 protein_coding, 19 retained_intron, 10 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000356338, ENST00000399228, ENST00000399229, ENST00000399231, ENST00000399233, ENST00000465290, ENST00000469611, ENST00000553916, ENST00000556196, ENST00000561810, ENST00000685053, ENST00000685194, ENST00000685760, ENST00000685996, ENST00000686166, ENST00000686171, ENST00000686603, ENST00000686659, ENST00000686796, ENST00000686989, ENST00000687172, ENST00000687574, ENST00000687728, ENST00000687748, ENST00000687968, ENST00000688010, ENST00000688074, ENST00000688361, ENST00000688792, ENST00000688798, ENST00000688841, ENST00000689526, ENST00000689601, ENST00000689859, ENST00000689897, ENST00000690537, ENST00000690693, ENST00000690775, ENST00000690802, ENST00000691028, ENST00000691073, ENST00000691448, ENST00000691521, ENST00000691732, ENST00000692201, ENST00000692324, ENST00000692556, ENST00000692646, ENST00000692708, ENST00000692874, ENST00000693471

RefSeq mRNA: 6 — MANE Select: NM_001382347 NM_000259, NM_001142495, NM_001382347, NM_001382348, NM_001382349, NM_001411135

CCDS: CCDS42037, CCDS45262, CCDS91999, CCDS92001

Canonical transcript exons

ENST00000399233 — 42 exons

Exon	Start	End
ENSE00000378529	52351254	52351481
ENSE00000574895	52428398	52428569
ENSE00000689281	52353605	52353658
ENSE00000689282	52353871	52354014
ENSE00000689283	52359968	52360081
ENSE00000689284	52364554	52364702
ENSE00000689285	52367031	52367124
ENSE00000884767	52346361	52346461
ENSE00000942049	52343117	52343197
ENSE00000942051	52340196	52340394
ENSE00000942053	52336463	52336556
ENSE00000942054	52330353	52330499
ENSE00000942055	52327852	52328006
ENSE00000942056	52323355	52323444
ENSE00000942057	52321359	52321509
ENSE00000942059	52319060	52319342
ENSE00000942060	52317048	52317222
ENSE00000942061	52314123	52314203
ENSE00001388399	52433175	52433285
ENSE00001667002	52348818	52348826
ENSE00001849007	52307283	52313848
ENSE00002502426	52528780	52528880
ENSE00003460756	52372124	52372363
ENSE00003463972	52376347	52376558
ENSE00003468502	52379625	52379733
ENSE00003469236	52397201	52397466
ENSE00003480339	52379822	52379908
ENSE00003485640	52396316	52396397
ENSE00003493324	52410333	52410476
ENSE00003509740	52389238	52389363
ENSE00003554389	52387829	52387912
ENSE00003560315	52391930	52392070
ENSE00003583670	52407292	52407399
ENSE00003600236	52416145	52416301
ENSE00003603264	52425830	52425974
ENSE00003619235	52375304	52375460
ENSE00003670112	52383091	52383188
ENSE00003672606	52384161	52384322
ENSE00003687784	52405287	52405393
ENSE00003691267	52408059	52408140
ENSE00003691712	52370169	52370417
ENSE00003788702	52337810	52337884

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 98.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.0798 / max 339.0867, expressed in 1730 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150007	11.1036	1636
150010	6.5459	1597
150011	0.3333	119
150005	0.2438	92
150009	0.2408	99
150006	0.1367	38
150013	0.1311	67
149994	0.1058	39
150008	0.0782	31
150012	0.0578	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	98.80	gold quality
endothelial cell	CL:0000115	98.66	gold quality
substantia nigra pars compacta	UBERON:0001965	97.71	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.65	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.48	gold quality
parietal lobe	UBERON:0001872	97.41	gold quality
postcentral gyrus	UBERON:0002581	97.31	gold quality
pons	UBERON:0000988	97.17	gold quality
superior frontal gyrus	UBERON:0002661	96.56	gold quality
entorhinal cortex	UBERON:0002728	96.35	gold quality
cortical plate	UBERON:0005343	95.77	gold quality
superior vestibular nucleus	UBERON:0007227	95.74	gold quality
lateral globus pallidus	UBERON:0002476	95.41	gold quality
primary visual cortex	UBERON:0002436	94.92	gold quality
occipital lobe	UBERON:0002021	94.30	gold quality
ventral tegmental area	UBERON:0002691	93.79	gold quality
prefrontal cortex	UBERON:0000451	93.71	gold quality
cerebellar vermis	UBERON:0004720	92.99	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.44	gold quality
pigmented layer of retina	UBERON:0001782	92.14	gold quality
frontal cortex	UBERON:0001870	92.06	gold quality
middle temporal gyrus	UBERON:0002771	91.95	gold quality
dorsal plus ventral thalamus	UBERON:0001897	91.88	gold quality
subthalamic nucleus	UBERON:0001906	91.87	gold quality
cerebral cortex	UBERON:0000956	91.85	gold quality
neocortex	UBERON:0001950	91.84	gold quality
corpus callosum	UBERON:0002336	91.54	gold quality
upper leg skin	UBERON:0004262	91.39	gold quality
inferior vagus X ganglion	UBERON:0005363	91.32	gold quality
temporal lobe	UBERON:0001871	91.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	17.93
E-GEOD-135922	yes	8.54
E-GEOD-137537	yes	7.56
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, SNAI1

miRNA regulators (miRDB)

263 targeting MYO5A, 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-6867-5P	100.00	82.21	3464
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• role of function in melanosome transport (PMID:11980908)
• MYO5A mutations in Griscelli disease (PMID:12148598)
• Interactions of human Myosin Va isoforms in human melanocytes are tightly regulated by the tail domain. Interaction with rab27a and melanophilin. Myosin Va medial tail domain provides the globular tail domain with organelle-interacting specificity. (PMID:12603861)
• Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (PMID:12897212)
• the endosome-associated protein hrs is a subunit of a protein complex containing actinin-4, BERP, and myosin V that is necessary for efficient TfR recycling but not for EGFR degradation (PMID:15772161)
• MYO5A transports dense core secretory vesicles in pancreatic MIN6 beta-cells. (PMID:15788565)
• exon B and its associated dynein light chain have a significant effect on the structure of parts of the coiled-coil tail domains and such a way could influence the regulation and cargo-binding function of myosin Va (PMID:17029413)
• present a kinetic model for the walking of myosin V on actin (PMID:17487986)
• Data suggest that myosin-V makes two brownian 90 degrees rotations per 36-nm step as it processively walks on actin filaments in a hand-over-hand fashion. (PMID:17891151)
• MyoVa directly mediates stable attachment of secretory granules at the plasma membrane. (PMID:17898234)
• Specific knockdown of MyoVa exon F isoforms resulted in transport inhibition of melanosomes to peripheral subcortical actin network in dendrite tips; perinuclear aggregation of melanosomes. May become innovative drug to treat hyperpigmentation. (PMID:18401430)
• During primate spermiogenesis, dynein, myosin Va, MyRIP and Rab27b that compose microtubule-based and actin-based vesicle transport systems are actually present in the manchette and might possibly be involved in intramanchette transport. (PMID:18478159)
• related Rab protein, Rab10, can interact with myosin Va, myosin Vb, and myosin Vc (PMID:19008234)
• data demonstrate an essential role of myosin Va in cancer cell migration and metastasis, and suggest a novel target for Snail in its regulation of cancer progression (PMID:19521958)
• Myosin-Va has a role in restraining Na(+)/K(+)-ATPase-containing vesicles within intracellular pools. (PMID:19808891)
• MARCKS and related chaperones bind to unconventional myosin V isoforms in airway epithelial cells (PMID:20203291)
• Myo5a is activated in cells during HSV-1 infection to help transport virion- and glycoprotein-laden vesicles from the TGN, through the cortical actin, to the plasma membrane. (PMID:20631136)
• Myosin Va is required for P body but not stress granule formation. (PMID:21245139)
• Myo5a and Rab3A are direct binding partners and interact on synaptic vesicles and the Myo5a/Rab3A complex is involved in transport of neuronal vesicles (PMID:21349835)
• A Rab27a/MyRIP/myosin Va complex is involved in linking von-Willebrand factor (Vwf) to the peripheral actin cytoskeleton of endothelial cells to allow full maturation and prevent premature secretion of vWF. (PMID:21740491)
• Calmodulin bound to the first IQ motif is responsible for calcium-dependent regulation of myosin 5a. (PMID:22437832)
• Myosin Va plays a role in the transport and turnover of mRNA. [Review] (PMID:23176491)
• myosin-Va promotes adhesion dynamics, anchorage-independent survival, migration, and invasion in vitro (PMID:23652798)
• Data indicate that myosin Va interacted with multiple new Rab subfamilies including Rab6, Rab14 and Rab39B. (PMID:24006491)
• the cargo-binding domain (CBD) structures of the three human MyoV paralogs (Va, Vb, and Vc), revealing subtle structural changes that drive functional differentiation and a novel redox mechanism controlling the CBD dimerization process (PMID:24097982)
• several crystal structures of the myosin Va or the myosin Vb globular tail domain that gives insights into how the motor is linked to the recycling membrane compartments via Rab11 or the melanophilin adaptor that binds to Rab27a. (PMID:24248336)
• Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c. (PMID:24339992)
• These findings reveal a new fast-acting energy conservation strategy halting growth by immobilizing myosin V in a newly described state on selectively stabilized actin cables. (PMID:25308080)
• the inhibited Myo5a is equilibrated between the folded state, in which the Mlph-binding site is buried, and the preactivated state, in which the Mlph-binding site is exposed, and that Mlph is able to bind to the Myo5a in preactivated state and activates its motor function. (PMID:27129208)
• ETV6-NTRK3, MYO5A-NTRK3 and MYH9-NTRK3 fusions are identified in Spitz tumours and demonstrated that NTRK3 fusions constitutively activate the mitogen-activated protein kinase, phosphoinositide 3-kinase and phospholipase Cgamma1 pathways in melanocytes. (PMID:27477320)
• the essential melanocyte-specific transcription factor MITF regulates expression of the MYO5A gene, which encodes the molecular motor myosin-Va. (PMID:27939378)
• Mechanochemical cycle of myosin-V has been reported. (PMID:28193897)
• our studies revealed RPGRIP1L as a novel MyoVa-binding protein - the first to be demonstrated to interact with MyoVa at the centrosome - and uncover an unprecedented link between MyoVa and ciliogenesis, providing new perspectives for studies aiming to better understand why defects in MyoVa cause neurological disorders in Griscelli syndrome patients. (PMID:28266547)
• Data suggest that membrane tethering mediated by endosomal RAB11A is drastically and selectively stimulated by its cognate Rab effectors, class V myosins (MYO5A and MYO5B), in a GTP-dependent manner. (RAB11A = ras-related GTPase Rab-11A; MYO5 = myosin class V) (PMID:28939769)
• human cytomegalovirus capsids associate with nuclear myosin Va and F-actin and that antagonism of myosin Va impairs capsid localization toward the nuclear rim and nuclear egress. (PMID:29298889)
• Depletion of myosin-Va significantly inhibits the attachment of preciliary vesicles to the distal appendages of the mother centriole and decreases cilia assembly. Myosin-Va functions upstream of EHD1- and Rab11-mediated ciliary vesicle formation. (PMID:29335527)
• MYO5A, having rare amino acid mutations p.R849Q and p.V1601G, was involved in the biological network of known MODY genes. (PMID:29670293)
• demonstrate that high expression of myosin 5a may be an independent prognostic factor in patients with Esophageal squamous cell carcinoma (PMID:29898384)
• Spermine synthase (SMS) localized together with myosin Va (MyoVa) in cytoplasmic vesicles of breast cancer MCF-7 and neuroblastoma SH-SY5Y cell lines, known to produce exosomes, supporting a role for MyoVa in SMS expression and targeting. (PMID:30733278)
• LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation. (PMID:32496561)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo5aa	ENSDARG00000061635
mus_musculus	Myo5a	ENSMUSG00000034593
rattus_norvegicus	Myo5a	ENSRNOG00000058866

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-Va — Q9Y4I1 (reviewed: Q9Y4I1)

Alternative names: Dilute myosin heavy chain, non-muscle, Myosin heavy chain 12, Myosin-12, Myoxin

All UniProt accessions (30): A0A8I5KQ70, A0A8I5KRA4, A0A8I5KRL5, A0A8I5KRP9, A0A8I5KRS2, A0A8I5KTF1, A0A8I5KTM5, A0A8I5KUG0, A0A8I5KV14, A0A8I5KVK9, A0A8I5KWE1, A0A8I5KWM1, A0A8I5KX10, A0A8I5KXP8, A0A8I5KXS5, A0A8I5KXW9, A0A8I5KYM3, A0A8I5KYS5, A0A8I5QJA8, A0A8I5QJE6, A0A8I5QJF6, A0A8I5QKR9, A0A8I5QKS7, A0A8J8YWI7, E7ERV5, Q9Y4I1, F8WE88, G3V394, G3V3C9, H0Y3R0

UniProt curated annotations — full annotation on UniProt →

Function. Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyze ATP in the presence of actin, which is essential for its function as a motor protein. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.

Subunit / interactions. May be a homodimer, which associates with multiple calmodulin or myosin light chains. Interacts with RIPL2, the interaction is required for its role in dendrite formation. Interacts with MLPH. Interacts with SYTL4. Interacts with MYRIP. Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles. Interacts with FMR1; this interaction occurs in association with polyribosome.

Tissue specificity. Detected in melanocytes.

Disease relevance. Griscelli syndrome 1 (GS1) [MIM:214450] Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and intellectual disability, without apparent immune abnormalities. The disease is caused by variants affecting the gene represented in this entry. Some patients who have MYO5A pathogenic variants and originally diagnosed with Griscelli syndrome 1 may rather have Elejalde syndrome.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y4I1-1	1	yes
Q9Y4I1-2	2
Q9Y4I1-3	3

RefSeq proteins (6): NP_000250, NP_001135967, NP_001369276, NP_001369277, NP_001369278, NP_001398064 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002710	Dilute_dom	Domain
IPR004009	SH3_Myosin	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036103	MYSc_Myo5	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR037988	Myo5a_CBD	Domain
IPR058662	Myo5a/b_dom	Domain

Pfam: PF00063, PF00612, PF01843, PF25966

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (70 total): helix 21, sequence conflict 12, domain 9, modified residue 6, strand 6, sequence variant 3, turn 3, region of interest 2, coiled-coil region 2, splice variant 2, initiator methionine 1, chain 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
4LX2	X-RAY DIFFRACTION	1.5
5JCY	X-RAY DIFFRACTION	1.8
4D07	X-RAY DIFFRACTION	1.85
4LX1	X-RAY DIFFRACTION	1.87
5JCZ	X-RAY DIFFRACTION	2.06
4J5L	X-RAY DIFFRACTION	2.2
4LLI	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y4I1-F1	77.03	0.25

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 (1): 163–170

Post-translational modifications (6): 2, 600, 1032, 1452, 1652, 1760

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-2029482	Regulation of actin dynamics for phagocytic cup formation
R-HSA-264876	Insulin processing
R-HSA-9664422	FCGR3A-mediated phagocytosis
R-HSA-9824585	Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-1266738	Developmental Biology
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-199991	Membrane Trafficking
R-HSA-2029480	Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-2980736	Peptide hormone metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5663205	Infectious disease
R-HSA-9658195	Leishmania infection
R-HSA-9664407	Parasite infection
R-HSA-9664417	Leishmania phagocytosis
R-HSA-9730414	MITF-M-regulated melanocyte development
R-HSA-9824443	Parasitic Infection Pathways
R-HSA-9856651	MITF-M-dependent gene expression

MSigDB gene sets: 419 (showing top): GOBP_REGULATION_OF_GOLGI_ORGANIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_PIGMENT_GRANULE_LOCALIZATION, GOBP_VESICLE_LOCALIZATION, GOCC_SECRETORY_GRANULE, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_CELLULAR_PIGMENTATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_RUFFLE, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (11): post-Golgi vesicle-mediated transport (GO:0006892), endocytosis (GO:0006897), actin filament organization (GO:0007015), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), actin filament-based movement (GO:0030048), vesicle transport along actin filament (GO:0030050), melanosome transport (GO:0032402), cellular response to insulin stimulus (GO:0032869), protein localization to plasma membrane (GO:0072659), intracellular signal transduction (GO:0035556)

GO Molecular Function (13): microfilament motor activity (GO:0000146), RNA binding (GO:0003723), calmodulin binding (GO:0005516), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), small GTPase binding (GO:0031267), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), catalytic activity (GO:0003824), GTPase activator activity (GO:0005096), protein binding (GO:0005515)

GO Cellular Component (21): ruffle (GO:0001726), cytoplasm (GO:0005737), cytosol (GO:0005829), actin cytoskeleton (GO:0015629), membrane (GO:0016020), myosin complex (GO:0016459), growth cone (GO:0030426), filopodium tip (GO:0032433), insulin-responsive compartment (GO:0032593), melanosome (GO:0042470), neuron projection (GO:0043005), extracellular exosome (GO:0070062), lysosome (GO:0005764), early endosome (GO:0005769), late endosome (GO:0005770), peroxisome (GO:0005777), endoplasmic reticulum (GO:0005783), actin filament (GO:0005884), cytoplasmic vesicle (GO:0031410), vesicle (GO:0031982), recycling endosome (GO:0055037)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Membrane Trafficking	1
Fcgamma receptor (FCGR) dependent phagocytosis	1
Peptide hormone metabolism	1
Leishmania phagocytosis	1
MITF-M-dependent gene expression	1
Immune System	1
Vesicle-mediated transport	1
Innate Immune System	1
Metabolism of proteins	1
Disease	1
Parasitic Infection Pathways	1
Leishmania infection	1
Parasite infection	1
Developmental Biology	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
transport	2
intracellular anatomical structure	2
ATP-dependent activity	2
molecular_function	2
plasma membrane bounded cell projection	2
actin cytoskeleton	2
endosome	2
Golgi vesicle transport	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
actin filament-based process	1
actin filament-based movement	1
actin filament-based transport	1
vesicle cytoskeletal trafficking	1
melanosome localization	1
establishment of melanosome localization	1
pigment granule transport	1
response to insulin	1
cellular response to peptide hormone stimulus	1
protein localization to membrane	1
protein localization to cell periphery	1
signal transduction	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
nucleic acid binding	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
GTPase binding	1
actin binding	1

Protein interactions and networks

STRING

3915 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO5A	MLPH	Q9BV36	999
MYO5A	RAB27A	P51159	999
MYO5A	MYRIP	Q8NFW9	988
MYO5A	MREG	Q8N565	887
MYO5A	RAB27B	O00194	882
MYO5A	RAB10	P61026	846
MYO5A	GRIA1	P42261	834
MYO5A	FMR1	Q06787	828
MYO5A	NEFL	P07196	823
MYO5A	SYTL1	Q8IYJ3	819
MYO5A	RPH3A	Q9Y2J0	793
MYO5A	RAB11A	P24410	791
MYO5A	RAB3A	P20336	789
MYO5A	SYTL2	Q9HCH5	784
MYO5A	RAB8A	P24407	755

IntAct

144 interactions, top by confidence:

A	B	Type	Score
ARRDC1	WWP2	psi-mi:“MI:0914”(association)	0.850
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
PKN3	ARHGAP10	psi-mi:“MI:0914”(association)	0.680
EID1	FBXO21	psi-mi:“MI:0914”(association)	0.650
MAPK7	PFDN6	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
SSH1	YWHAE	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
UBE2O	RPL23	psi-mi:“MI:0914”(association)	0.530
MYL2	MYL5	psi-mi:“MI:0914”(association)	0.530
CREB3	MYO9A	psi-mi:“MI:0914”(association)	0.530
RBMX2	WDR46	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
FOS	MYO1C	psi-mi:“MI:2364”(proximity)	0.480
ACTA1	RAB27A	psi-mi:“MI:0915”(physical association)	0.400
Actb		psi-mi:“MI:0914”(association)	0.350
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SYNPO	LMO7	psi-mi:“MI:0914”(association)	0.350
MYO5C	CLIC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (274): MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS), MYH11 (Co-fractionation), MYO5A (Co-fractionation), MYO5A (Co-fractionation), PLS3 (Co-fractionation), MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS), MYO5A (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JTR4, A0MQH0, A2RSQ0, A6QNS3, B2RTY4, E7EZG2, E7F3F0, E9PTA2, F4I507, O43795, O54865, P09851, P16068, P20595, P20936, P24786, P46735, P50904, P83900, P85298, Q02153, Q02440, Q05096, Q09LZ8, Q12979, Q13459, Q13507, Q16288, Q25BN1, Q49A26, Q4ZHR9, Q5R6F2, Q5SSL4, Q5ZLX4, Q63358, Q6TUI4, Q6ZUT9, Q8C170, Q8NHH1, Q91X46

Diamond homologs: A2AQP0, A7E2Y1, F1PT61, F4I507, F4I5Q6, F4IVR7, G3UW82, K7U9N8, O08638, O14157, O94477, P02563, P02564, P02565, P02566, P02567, P04461, P05659, P05661, P08799, P08964, P10587, P11055, P12844, P12845, P12847, P12882, P12883, P13533, P13535, P13538, P13539, P13540, P13541, P13542, P14105, P19524, P21271, P24733, P32492

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
MYO5A	up-regulates	Dense-core_vesicle_exocytosis
MYO5A	“up-regulates activity”	ACTB	binding
MYO5A	“up-regulates activity”	VAMP2	binding
AKT2	“up-regulates activity”	MYO5A	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 186 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
Striated Muscle Contraction	7	17.4×	9e-05
Regulation of PLK1 Activity at G2/M Transition	7	7.2×	1e-02
RHO GTPase Effectors	9	4.9×	1e-02
Signaling by Rho GTPases	13	3.6×	1e-02
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	13	3.5×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
actin filament organization	10	7.2×	2e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 4 cancer types — BRCA, HCC, LUNG, NBL.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	3
Uncertain significance	238
Likely benign	118
Benign	122

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
14069	NM_001382347.1(MYO5A):c.2332C>T (p.Arg778Ter)	Pathogenic
14070	MYO5A, 47-BP INS, NT4634	Pathogenic
14071	NM_001382347.1(MYO5A):c.4239+871_4315-331del	Pathogenic
1686909	NM_001382347.1(MYO5A):c.2110C>T (p.Gln704Ter)	Pathogenic
1686910	NM_001382347.1(MYO5A):c.463C>T (p.Arg155Ter)	Pathogenic
242881	NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg)	Pathogenic
4805515	NM_001382347.1(MYO5A):c.697C>T (p.Arg233Ter)	Pathogenic
561060	NM_001382347.1(MYO5A):c.2012+1G>T	Pathogenic
1334000	NM_001382347.1(MYO5A):c.3043C>T (p.Arg1015Ter)	Likely pathogenic
4277733	NM_001382347.1(MYO5A):c.655C>T (p.Arg219Cys)	Likely pathogenic
546756	NM_001382347.1(MYO5A):c.855dup (p.Asn286Ter)	Likely pathogenic

SpliceAI

6149 predictions. Top by Δscore:

Variant	Effect	Δscore
15:52314117:TCTTA:T	donor_loss	1.0000
15:52314118:CTTA:C	donor_loss	1.0000
15:52314119:TTAC:T	donor_loss	1.0000
15:52314120:TACCT:T	donor_loss	1.0000
15:52314121:ACC:A	donor_loss	1.0000
15:52314200:CAAT:C	acceptor_gain	1.0000
15:52314202:ATCT:A	acceptor_loss	1.0000
15:52314203:TCTG:T	acceptor_loss	1.0000
15:52314204:C:CA	acceptor_loss	1.0000
15:52314204:C:CC	acceptor_gain	1.0000
15:52317088:T:TA	donor_gain	1.0000
15:52317218:TGTAC:T	acceptor_gain	1.0000
15:52317219:GTAC:G	acceptor_gain	1.0000
15:52317220:TAC:T	acceptor_gain	1.0000
15:52317220:TACCT:T	acceptor_loss	1.0000
15:52317221:AC:A	acceptor_gain	1.0000
15:52317221:ACC:A	acceptor_loss	1.0000
15:52317222:CC:C	acceptor_gain	1.0000
15:52317223:C:CC	acceptor_gain	1.0000
15:52317224:T:A	acceptor_loss	1.0000
15:52317225:A:AC	acceptor_gain	1.0000
15:52317225:A:C	acceptor_gain	1.0000
15:52319055:CTCA:C	donor_loss	1.0000
15:52319056:TCAC:T	donor_loss	1.0000
15:52319057:CACCT:C	donor_loss	1.0000
15:52319058:A:C	donor_loss	1.0000
15:52319343:C:CC	acceptor_gain	1.0000
15:52321353:CCTTA:C	donor_loss	1.0000
15:52321354:CTTAC:C	donor_loss	1.0000
15:52321355:TTACC:T	donor_loss	1.0000

AlphaMissense

12477 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:52317117:T:A	Q1755H	1.000
15:52317117:T:G	Q1755H	1.000
15:52317121:A:G	L1754S	1.000
15:52317124:A:G	L1753P	1.000
15:52317130:G:T	A1751D	1.000
15:52317205:A:G	L1726P	1.000
15:52317222:C:A	R1720S	1.000
15:52317222:C:G	R1720S	1.000
15:52319060:C:A	R1720M	1.000
15:52319060:C:G	R1720T	1.000
15:52319072:C:A	G1716V	1.000
15:52319072:C:T	G1716D	1.000
15:52319073:C:A	G1716C	1.000
15:52319073:C:G	G1716R	1.000
15:52319080:C:A	W1713C	1.000
15:52319080:C:G	W1713C	1.000
15:52319082:A:G	W1713R	1.000
15:52319082:A:T	W1713R	1.000
15:52319086:G:C	C1711W	1.000
15:52319088:A:G	C1711R	1.000
15:52319099:C:G	R1707P	1.000
15:52319102:A:G	L1706P	1.000
15:52319105:A:G	L1705P	1.000
15:52319108:A:G	L1704P	1.000
15:52319330:A:G	L1630P	1.000
15:52321456:A:C	F1593L	1.000
15:52321456:A:T	F1593L	1.000
15:52321458:A:G	F1593L	1.000
15:52323400:G:C	N1560K	1.000
15:52323400:G:T	N1560K	1.000

dbSNP variants (sampled 300 via entrez): RS1000003140 (15:52413769 C>G), RS1000025403 (15:52473743 T>C), RS1000025611 (15:52371716 A>G), RS1000043811 (15:52325360 C>A), RS1000047105 (15:52492932 A>G), RS1000078791 (15:52407656 C>T), RS1000082979 (15:52460751 G>A,C), RS1000087628 (15:52449134 A>C), RS1000088166 (15:52507888 T>C,G), RS1000117555 (15:52426322 T>G), RS1000122359 (15:52339625 A>G), RS1000123517 (15:52364681 A>G), RS1000131681 (15:52512818 TC>T), RS1000194417 (15:52508568 T>C), RS1000253899 (15:52512792 T>C,G)

Disease associations

OMIM: gene MIM:160777 | disease phenotypes: MIM:214450, MIM:609227

GenCC curated gene-disease

Disease	Classification	Inheritance
Griscelli syndrome type 1	Definitive	Autosomal recessive
Griscelli syndrome type 3	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Griscelli syndrome type 1	Definitive	AR

Mondo (7): Griscelli syndrome type 1 (MONDO:0008962), Griscelli syndrome type 3 (MONDO:0012220), dystonic disorder (MONDO:0003441), pathologic nystagmus (MONDO:0004843), congenital heart disease (MONDO:0005453), intellectual disability (MONDO:0001071), hereditary breast ovarian cancer syndrome (MONDO:0003582)

Orphanet (5): Griscelli syndrome (Orphanet:381), Griscelli syndrome type 1 (Orphanet:79476), Griscelli syndrome type 3 (Orphanet:79478), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000486	Strabismus
HP:0000488	Retinopathy
HP:0000545	Myopia
HP:0000587	Abnormal optic nerve morphology
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000651	Diplopia
HP:0001008	Accumulation of melanosomes in melanocytes
HP:0001010	Hypopigmentation of the skin
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001276	Hypertonia
HP:0001290	Generalized hypotonia
HP:0001321	Cerebellar hypoplasia
HP:0001328	Specific learning disability
HP:0001337	Tremor
HP:0002063	Rigidity
HP:0002120	Cerebral cortical atrophy
HP:0002205	Recurrent respiratory infections
HP:0002216	Premature graying of hair
HP:0002218	Silver-gray hair
HP:0002220	Melanin pigment aggregation in hair shafts
HP:0002226	White eyebrow
HP:0002227	White eyelashes
HP:0002334	Abnormal cerebellar vermis morphology

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002118_4	Metabolite levels (Pyroglutamine)	2.000000e-06
GCST90002395_171	Mean platelet volume	7.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005408	pyroglutamine measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D020821	Dystonic Disorders	C10.228.662.300
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009759	Nystagmus, Pathologic	C10.292.562.675; C11.590.400
C537301	Griscelli syndrome type 1 (supp.)
C537303	Griscelli syndrome type 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	5
sodium arsenite	affects response to substance, increases expression	3
bisphenol A	decreases methylation, affects cotreatment, decreases expression	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
geldanamycin	increases expression	1
lead acetate	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium bichromate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
periodate-oxidized adenosine	affects expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
flavone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	decreases expression, affects cotreatment	1
NSC 689534	affects binding, increases expression	1
(+)-JQ1 compound	increases expression	1
Bortezomib	increases response to substance	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00142259	PHASE4	UNKNOWN	Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02263417	PHASE4	COMPLETED	A Randomized Controlled Trail Comparing Subthalamic and Pallidal Deep Brain Stimulation for Dystonia
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT00169403	PHASE3	UNKNOWN	Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia
NCT03232320	PHASE3	COMPLETED	Meditoxin® Treatment in Patients With Cervical Dystonia
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants
NCT01134302	PHASE3	UNKNOWN	Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983	PHASE3	WITHDRAWN	Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011	PHASE3	UNKNOWN	Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669	PHASE3	COMPLETED	Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
NCT02615262	PHASE3	COMPLETED	Intraoperative Dexamethasone in Pediatric Cardiac Surgery
NCT03153137	PHASE3	COMPLETED	Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects
NCT03154476	PHASE3	COMPLETED	Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study
NCT04536194	PHASE3	COMPLETED	Dopamine Versus Norepinephrine Under General Anesthesia
NCT04702373	PHASE3	ACTIVE_NOT_RECRUITING	Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT
NCT05049590	PHASE3	COMPLETED	Acute Normovolemic Hemodilution in Complex Cardiac Surgery
NCT06406517	PHASE3	UNKNOWN	Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics
NCT06693674	PHASE3	RECRUITING	Effect of Sacubitril-Valsartan on Cardiac Structure and Function
NCT06955260	PHASE3	NOT_YET_RECRUITING	SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure
NCT00001784	PHASE2	COMPLETED	Mexiletine for the Treatment of Focal Dystonia
NCT00105430	PHASE2	COMPLETED	Deep Brain Stimulation for Cervical Dystonia
NCT00106782	PHASE2	COMPLETED	Transcranial Electrical Polarization to Treat Focal Hand Dystonia
NCT00122044	PHASE2	COMPLETED	Childhood Hypertonia of Central Origin: A Trial of Anticholinergic Treatment Effects
NCT00169338	PHASE2	COMPLETED	Pallidal Stimulation in Patients With Post-anoxic and Idiopathic Dystonia
NCT00331669	PHASE2	UNKNOWN	Efficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia
NCT02107261	PHASE2	COMPLETED	Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician’s Hand