MYH1

Summary

MYH1 (myosin heavy chain 1, HGNC:7567) is a protein-coding gene on chromosome 17p13.1, encoding Myosin-1 (P12882). Required for normal hearing.

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development.

Source: NCBI Gene 4619 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary skeletal muscle disorder (Limited, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 250 total
• MANE Select transcript: NM_005963

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7567
Approved symbol	MYH1
Name	myosin heavy chain 1
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	MYHSA1, MYHa, MyHC-2X/D, MGC133384
Ensembl gene	ENSG00000109061
Ensembl biotype	protein_coding
OMIM	160730
Entrez	4619

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000226207, ENST00000958695, ENST00000958696, ENST00000958697, ENST00000958698, ENST00000958699, ENST00000958700, ENST00000958701, ENST00000958702, ENST00000958703, ENST00000958704

RefSeq mRNA: 1 — MANE Select: NM_005963 NM_005963

CCDS: CCDS11155

Canonical transcript exons

ENST00000226207 — 40 exons

Exon	Start	End
ENSE00000855303	10508363	10508672
ENSE00000855335	10516439	10516682
ENSE00000907703	10514010	10514124
ENSE00001523849	10518240	10518270
ENSE00001523850	10518520	10518542
ENSE00002327489	10505388	10505511
ENSE00002329775	10503006	10503248
ENSE00002334067	10505163	10505299
ENSE00002334142	10512867	10512965
ENSE00002336372	10512408	10512546
ENSE00002338102	10498626	10498822
ENSE00002338717	10495950	10496153
ENSE00002341523	10501766	10501911
ENSE00002343803	10505812	10505929
ENSE00002349976	10497287	10497452
ENSE00002350011	10513626	10513689
ENSE00002350916	10516199	10516342
ENSE00002352104	10502738	10502914
ENSE00002353383	10498974	10499092
ENSE00002353855	10511839	10511988
ENSE00002355465	10495192	10495317
ENSE00002370028	10512074	10512192
ENSE00002373163	10506012	10506099
ENSE00002375862	10507886	10507956
ENSE00002377318	10494569	10494673
ENSE00002382751	10500626	10500752
ENSE00002382982	10509485	10509655
ENSE00002385748	10494354	10494449
ENSE00002391478	10513821	10513913
ENSE00002392616	10515926	10516082
ENSE00002392764	10514868	10514895
ENSE00002393346	10497734	10497917
ENSE00002397868	10496241	10496549
ENSE00002402462	10512681	10512784
ENSE00002412626	10501594	10501684
ENSE00002413065	10501110	10501499
ENSE00002423783	10504810	10505065
ENSE00002429187	10494931	10495101
ENSE00002694087	10497069	10497193
ENSE00002721405	10492307	10492568

Expression profiles

Bgee: expression breadth ubiquitous, 151 present calls, max score 99.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.8127 / max 445.6500, expressed in 45 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164569	1.8027	45
164570	0.0099	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.91	gold quality
biceps brachii	UBERON:0001507	99.62	gold quality
vastus lateralis	UBERON:0001379	99.54	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.53	gold quality
quadriceps femoris	UBERON:0001377	99.45	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.42	gold quality
diaphragm	UBERON:0001103	99.39	gold quality
skeletal muscle tissue	UBERON:0001134	99.26	gold quality
gastrocnemius	UBERON:0001388	99.02	gold quality
deltoid	UBERON:0001476	98.15	gold quality
muscle organ	UBERON:0001630	98.02	gold quality
skeletal muscle organ	UBERON:0014892	98.02	gold quality
muscle of leg	UBERON:0001383	97.54	gold quality
triceps brachii	UBERON:0001509	96.12	gold quality
larynx	UBERON:0001737	94.12	gold quality
tibialis anterior	UBERON:0001385	93.83	gold quality
body of tongue	UBERON:0011876	90.91	gold quality
muscle tissue	UBERON:0002385	90.74	gold quality
gluteal muscle	UBERON:0002000	86.22	gold quality
pharyngeal mucosa	UBERON:0000355	83.48	gold quality
tongue	UBERON:0001723	80.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.56	silver quality
apex of heart	UBERON:0002098	74.07	gold quality
trabecular bone tissue	UBERON:0002483	73.41	gold quality
tendon of biceps brachii	UBERON:0008188	68.36	silver quality
superior surface of tongue	UBERON:0007371	63.62	gold quality
oral cavity	UBERON:0000167	62.49	silver quality
buccal mucosa cell	CL:0002336	61.29	gold quality
heart left ventricle	UBERON:0002084	59.97	gold quality
synovial joint	UBERON:0002217	59.80	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ANGPT1, IKZF4, IRX4, MEF2A, MEF2C, MEF2D, POU2F1, SRF, TBP, TEK

miRNA regulators (miRDB)

17 targeting MYH1, 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-9-5P	100.00	72.28	2361
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-4504	99.10	69.14	1328
HSA-MIR-5587-5P	99.07	68.58	838
HSA-MIR-1236-5P	96.62	66.38	856

Literature-anchored findings (GeneRIF, showing 10)

• Modular organization of phylogenetically conserved domains controlling developmental regulation of the human skeletal gene family (PMID:11971910)
• frequency of fibers expressing myosin heavy chain (MyHC) IIx increased in spastic paresis (PMID:17196619)
• Patients on hemodialysis demonstrate relatively fewer type 1 and consequently more type 2x fibres, with a corresponding change in MHC isoforms (MHC I and MHC IIX) in the skeletal muscle. (PMID:17853024)
• we found a higher percentage of fibers expressing fast MyHC IIx in tetraplegic cerebral palsy (PMID:17916367)
• the expression levels of the MHC genes are associated with age and both PGC-1alpha and PGC-1beta and indicate that the MHC genes may to some extent be used to determine fibre-type composition in human skeletal muscle. (PMID:21470888)
• The human genioglossus muscle is composed of conventional myosin heavy chain isoforms and 3 primary myosin heavy chain phenotypes. (PMID:22337492)
• adaptive response to reduced masticatory load was lower numerical and area proportion of MyHC-1 expressing fibres and higher numerical proportion of hybrid fibres in edentulous compared with dentate subjects (PMID:22489880)
• Myosin isoforms impact single-fiber force generation and may lead to alterations in whole skeletal muscle performance. (PMID:25567808)
• Transcriptional levels of MHC-I, MHC-IIa, and MHC-IIb in denervation groups were significantly down-regulated compared with controls (PMID:26059207)
• MYH1 is a candidate gene for recurrent rhabdomyolysis in humans. (PMID:33755318)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Myh1	ENSMUSG00000056328
rattus_norvegicus	Myh1	ENSRNOG00000083924

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), 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), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Myosin-1 — P12882 (reviewed: P12882)

Alternative names: Myosin heavy chain 1, Myosin heavy chain 2x, Myosin heavy chain IIx/d, Myosin heavy chain, skeletal muscle, adult 1

All UniProt accessions (1): P12882

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal hearing. It plays a role in cochlear amplification of auditory stimuli, likely through the positive regulation of prestin (SLC26A5) activity and outer hair cell (OHC) electromotility.

Subunit / interactions. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with SLC26A5.

Subcellular location. Cytoplasm. Myofibril.

Domain organisation. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).

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

RefSeq proteins (1): NP_005954* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002928	Myosin_tail	Domain
IPR004009	SH3_Myosin	Domain
IPR008989	Myosin_S1_N	Homologous_superfamily
IPR014751	XRCC4-like_C	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063, PF01576, PF02736

UniProt features (79 total): modified residue 37, sequence conflict 19, sequence variant 15, domain 3, region of interest 2, chain 1, coiled-coil region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12882-F1	73.85	0.09

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): 179–186

Post-translational modifications (37): 130, 389, 419, 424, 757, 1092, 1096, 1162, 1237, 1241, 1243, 1261, 1265, 1286, 1288, 1292, 1303, 1306, 1467, 1474 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, HUMMERICH_BENIGN_SKIN_TUMOR_DN, KEGG_TIGHT_JUNCTION, CHX10_01, AAAYRNCTG_UNKNOWN, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, MARTINEZ_RB1_TARGETS_UP, KEGG_VIRAL_MYOCARDITIS, CATRRAGC_UNKNOWN, GOBP_MUSCLE_CONTRACTION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, LEE_LIVER_CANCER_DENA_DN, TATA_C, AACTTT_UNKNOWN

GO Biological Process (2): muscle contraction (GO:0006936), sensory perception of sound (GO:0007605)

GO Molecular Function (8): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (10): cytoplasm (GO:0005737), muscle myosin complex (GO:0005859), intercalated disc (GO:0014704), myosin II complex (GO:0016460), A band (GO:0031672), myosin filament (GO:0032982), cytoplasmic ribonucleoprotein granule (GO:0036464), myosin complex (GO:0016459), myofibril (GO:0030016), supramolecular fiber (GO:0099512)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
contractile muscle fiber	2
myosin complex	2
muscle system process	1
sensory perception of mechanical stimulus	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
myosin II complex	1
cell-cell contact zone	1
sarcomere	1
supramolecular fiber	1
cytoplasm	1
ribonucleoprotein granule	1
actin cytoskeleton	1
protein-containing complex	1
supramolecular polymer	1

Protein interactions and networks

STRING

1844 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYH1	MYOG	P15173	784
MYH1	TNNT3	P45378	732
MYH1	MUTYH	Q9UIF7	729
MYH1	ACTA1	P02568	725
MYH1	ACTN3	Q08043	703
MYH1	POTEF	A5A3E0	702
MYH1	MYBPC2	Q14324	694
MYH1	ENO3	P13929	691
MYH1	DYNLL1	P63167	673
MYH1	MYF6	P23409	669
MYH1	ACTB	P02570	664
MYH1	UNC45B	Q8IWX7	654
MYH1	MYOD1	P15172	648
MYH1	BAZ1B	Q9UIG0	637
MYH1	MYL2	P10916	626

IntAct

85 interactions, top by confidence:

A	B	Type	Score
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
BAZ1B	SMARCA5	psi-mi:“MI:0915”(physical association)	0.810
BAZ1B	SMARCA5	psi-mi:“MI:0914”(association)	0.810
PRKAG2	PRKAB2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
KRT13	MYH1	psi-mi:“MI:0915”(physical association)	0.560
MYH1	KRT13	psi-mi:“MI:0915”(physical association)	0.560
MYH1	CCDC125	psi-mi:“MI:0915”(physical association)	0.560
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
STAU1	DYNC1I1	psi-mi:“MI:0914”(association)	0.430
MAGEB5	MYH1	psi-mi:“MI:0915”(physical association)	0.400
KRT8	MYH1	psi-mi:“MI:0915”(physical association)	0.400
LRRC39	MYH1	psi-mi:“MI:0915”(physical association)	0.370
KLC3	KLC1	psi-mi:“MI:0914”(association)	0.350
VPS26B	KIF1B	psi-mi:“MI:0914”(association)	0.350
Esrrb	WASL	psi-mi:“MI:0914”(association)	0.350
PDK1	VWA8	psi-mi:“MI:0914”(association)	0.350
HNRNPD	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
SYNCRIP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
CBR1	DENND3	psi-mi:“MI:0914”(association)	0.350
SORT1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
ARRB1		psi-mi:“MI:0914”(association)	0.350
HIF1A	MYL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (75): MYH1 (Two-hybrid), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS), ACTN2 (Co-fractionation), RIMS1 (Co-fractionation), TPM1 (Co-fractionation), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS), MYH1 (Affinity Capture-MS)

ESM2 similar proteins: A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A5DKH0, A5E4A8, A6SED8, A6ZMG6, A7EK16, A8N2Y6, A8PWF6, B0CRJ3, B0Y9Q4, E1BPK6, E9Q634, G3UW82, O00160, P0CP00, P0CP01, P12882, P13538, P49824, Q00647, Q04439, Q076A6, Q076A7, Q0CEX5, Q12965, Q1DLP2, Q28641, Q2HDI2, Q2US45, Q4WC55, Q59MQ0, Q63356, Q64331, Q6BUQ2, Q6C7C0, Q6CVE9

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

6 interactions.

A	Effect	B	Mechanism
MEF2A	“up-regulates quantity by expression”	MYH1	“transcriptional regulation”
MEF2D	“up-regulates quantity by expression”	MYH1	“transcriptional regulation”
MEF2C	“up-regulates quantity by expression”	MYH1	“transcriptional regulation”
POU2F1	“up-regulates quantity by expression”	MYH1	“transcriptional regulation”
TEK	“up-regulates quantity by expression”	MYH1	“transcriptional regulation”
ANGPT1	“up-regulates quantity by expression”	MYH1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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
NGF-stimulated transcription	5	21.3×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein phosphorylation	9	7.3×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	238
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3529 predictions. Top by Δscore:

Variant	Effect	Δscore
17:10494347:AACTC:A	donor_loss	1.0000
17:10494349:CTCAC:C	donor_loss	1.0000
17:10494350:TCAC:T	donor_loss	1.0000
17:10494352:A:AC	donor_gain	1.0000
17:10494352:A:T	donor_loss	1.0000
17:10494352:ACCG:A	donor_gain	1.0000
17:10494353:C:CC	donor_gain	1.0000
17:10494353:CCG:C	donor_gain	1.0000
17:10494353:CCGC:C	donor_gain	1.0000
17:10494446:CAGT:C	acceptor_gain	1.0000
17:10494447:AGT:A	acceptor_gain	1.0000
17:10494448:GT:G	acceptor_gain	1.0000
17:10494448:GTC:G	acceptor_loss	1.0000
17:10494450:C:CC	acceptor_gain	1.0000
17:10494451:T:A	acceptor_loss	1.0000
17:10494455:A:AC	acceptor_gain	1.0000
17:10494458:A:AC	acceptor_gain	1.0000
17:10494562:T:A	donor_gain	1.0000
17:10494565:TTAC:T	donor_loss	1.0000
17:10494567:A:AC	donor_gain	1.0000
17:10494567:ACTT:A	donor_loss	1.0000
17:10494568:C:CC	donor_gain	1.0000
17:10494568:CT:C	donor_gain	1.0000
17:10494568:CTT:C	donor_gain	1.0000
17:10494568:CTTG:C	donor_gain	1.0000
17:10494669:CGAAC:C	acceptor_gain	1.0000
17:10494670:GAAC:G	acceptor_gain	1.0000
17:10494671:AAC:A	acceptor_gain	1.0000
17:10494672:AC:A	acceptor_gain	1.0000
17:10494672:ACCTA:A	acceptor_loss	1.0000

AlphaMissense

12980 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:10495079:A:G	L1773P	1.000
17:10505852:C:G	G712R	1.000
17:10505866:C:G	R707P	1.000
17:10505872:C:T	G705D	1.000
17:10505873:C:G	G705R	1.000
17:10505884:C:T	G701D	1.000
17:10505885:C:G	G701R	1.000
17:10505886:G:C	N700K	1.000
17:10505886:G:T	N700K	1.000
17:10505896:A:G	L697P	1.000
17:10506040:G:C	C676W	1.000
17:10506041:C:T	C676Y	1.000
17:10506042:A:G	C676R	1.000
17:10506049:A:C	F673L	1.000
17:10506049:A:T	F673L	1.000
17:10506051:A:G	F673L	1.000
17:10506083:A:G	L662P	1.000
17:10508474:A:G	W596R	1.000
17:10508474:A:T	W596R	1.000
17:10508503:G:T	A586D	1.000
17:10509524:A:C	F516L	1.000
17:10509524:A:T	F516L	1.000
17:10509526:A:G	F516L	1.000
17:10509539:C:A	W511C	1.000
17:10509539:C:G	W511C	1.000
17:10509541:A:G	W511R	1.000
17:10509541:A:T	W511R	1.000
17:10509562:A:G	Y504H	1.000
17:10509581:G:C	F497L	1.000
17:10509581:G:T	F497L	1.000

dbSNP variants (sampled 300 via entrez): RS1000027906 (17:10517012 G>A), RS1000081691 (17:10500556 A>G), RS1000372725 (17:10514653 T>G), RS1000439822 (17:10517272 A>G), RS1000584927 (17:10497019 G>A), RS1000869016 (17:10492605 C>G,T), RS1001148455 (17:10506251 C>A,T), RS1001162099 (17:10516751 A>T), RS1001370409 (17:10515752 G>C), RS1001431953 (17:10518251 G>A), RS1001501349 (17:10509192 C>T), RS1001625877 (17:10492024 A>G), RS1001727588 (17:10498470 G>A), RS1001801712 (17:10516122 G>T), RS1001833134 (17:10510564 C>T)

Disease associations

OMIM: gene MIM:160730 | disease phenotypes: MIM:253800

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary skeletal muscle disorder	Limited	Autosomal recessive
rhabdomyolysis	Limited	Autosomal recessive

Mondo (3): muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MONDO:0009678), hereditary skeletal muscle disorder (MONDO:0700223), (MONDO:0005290)

Orphanet (3): Congenital muscular dystrophy, Fukuyama type (Orphanet:272), Muscle-eye-brain disease (Orphanet:588), Walker-Warburg syndrome (Orphanet:899)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D012206	Rhabdomyolysis	C05.651.807

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases expression	1
pyrrolidine dithiocarbamic acid	decreases expression, decreases reaction	1
boric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
incobotulinumtoxinA	decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Folic Acid	decreases expression	1
Phenolsulfonphthalein	affects cotreatment, increases expression	1
Progesterone	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, decreases reaction	1
Cadmium Chloride	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06374719	Not specified	RECRUITING	WiTNNess - TNNT1 Myopathy Natural History Study