MYO15B

Summary

MYO15B (myosin XVB, HGNC:14083) is a protein-coding gene on chromosome 17q25.1, encoding Unconventional myosin-XVB (Q96JP2).

Predicted to enable ATP binding activity; actin binding activity; and cytoskeletal motor activity. Predicted to be located in brush border; cytoplasm; and cytoskeleton. Predicted to be part of myosin complex.

Source: NCBI Gene 80022 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_001395058

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14083
Approved symbol	MYO15B
Name	myosin XVB
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	MYO15BP
Ensembl gene	ENSG00000266714
Ensembl biotype	protein_coding
OMIM	620915
Entrez	80022

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 17 retained_intron, 14 nonsense_mediated_decay, 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000577296, ENST00000577342, ENST00000577613, ENST00000577785, ENST00000577948, ENST00000577986, ENST00000578005, ENST00000578220, ENST00000578300, ENST00000578564, ENST00000578960, ENST00000579048, ENST00000579052, ENST00000580096, ENST00000580262, ENST00000580414, ENST00000580701, ENST00000580724, ENST00000581612, ENST00000581866, ENST00000582012, ENST00000582561, ENST00000582597, ENST00000583140, ENST00000584323, ENST00000584516, ENST00000584723, ENST00000610429, ENST00000610510, ENST00000612587, ENST00000619501, ENST00000621743, ENST00000633867, ENST00000642007, ENST00000645453, ENST00000687098, ENST00000704641

RefSeq mRNA: 2 — MANE Select: NM_001395058 NM_001309242, NM_001395058

CCDS: CCDS92396

Canonical transcript exons

ENST00000645453 — 64 exons

Exon	Start	End
ENSE00002704587	75621345	75621408
ENSE00002734359	75619879	75620020
ENSE00003712655	75613293	75613471
ENSE00003727759	75616312	75616446
ENSE00003746294	75592428	75592541
ENSE00003753989	75616524	75616785
ENSE00003775792	75618126	75618185
ENSE00003775927	75602517	75602594
ENSE00003776077	75616874	75616961
ENSE00003776256	75605864	75606021
ENSE00003776285	75625527	75625660
ENSE00003776322	75601438	75601563
ENSE00003776341	75596768	75596899
ENSE00003776483	75594701	75594759
ENSE00003776622	75624370	75624447
ENSE00003776649	75617810	75617922
ENSE00003776704	75594840	75594972
ENSE00003776738	75594475	75594588
ENSE00003776895	75619143	75619218
ENSE00003777030	75619358	75619476
ENSE00003777324	75592238	75592301
ENSE00003777325	75615240	75615338
ENSE00003777349	75591172	75591246
ENSE00003777626	75622004	75622080
ENSE00003777765	75625844	75625977
ENSE00003777809	75605504	75605621
ENSE00003777900	75603032	75603077
ENSE00003778314	75614961	75615042
ENSE00003778321	75596460	75596555
ENSE00003778387	75620467	75620636
ENSE00003778447	75624543	75624639
ENSE00003778907	75624771	75624916
ENSE00003779053	75614583	75614683
ENSE00003779405	75611886	75612016
ENSE00003779435	75624175	75624269
ENSE00003779518	75625123	75625238
ENSE00003779604	75611601	75611658
ENSE00003779768	75610900	75610959
ENSE00003779816	75621031	75621176
ENSE00003779928	75614773	75614849
ENSE00003780076	75619681	75619799
ENSE00003780379	75615503	75615600
ENSE00003780511	75623949	75624064
ENSE00003781042	75617085	75617304
ENSE00003781272	75603188	75603312
ENSE00003781331	75612798	75612893
ENSE00003781458	75626088	75626228
ENSE00003782000	75620246	75620357
ENSE00003782141	75614199	75614360
ENSE00003782262	75610166	75610259
ENSE00003782420	75602830	75602945
ENSE00003782497	75612974	75613209
ENSE00003782672	75613705	75613777
ENSE00003782696	75591977	75592080
ENSE00003782787	75616069	75616147
ENSE00003782822	75623781	75623854
ENSE00003783243	75621501	75621570
ENSE00003783244	75592679	75592840
ENSE00003783894	75615693	75615884
ENSE00003816010	75590626	75590689
ENSE00003825608	75590907	75591016
ENSE00003841582	75626407	75626849
ENSE00003923541	75591601	75591712
ENSE00003938644	75587800	75590243

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 99.49.

FANTOM5 (CAGE): breadth broad, TPM avg 4.4076 / max 606.1729, expressed in 513 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162745	2.5264	397
162744	0.7155	277
162748	0.6164	34
162750	0.1938	28
162743	0.1686	83
162747	0.1558	30
162752	0.0157	4
162751	0.0086	4
162749	0.0068	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.49	gold quality
left ovary	UBERON:0002119	99.36	gold quality
right ovary	UBERON:0002118	99.33	gold quality
endocervix	UBERON:0000458	99.28	gold quality
body of uterus	UBERON:0009853	99.24	gold quality
right lobe of thyroid gland	UBERON:0001119	99.22	gold quality
small intestine Peyer’s patch	UBERON:0003454	99.17	gold quality
left lobe of thyroid gland	UBERON:0001120	99.11	gold quality
left uterine tube	UBERON:0001303	99.11	gold quality
tibial nerve	UBERON:0001323	99.07	gold quality
mucosa of transverse colon	UBERON:0004991	99.06	gold quality
sural nerve	UBERON:0015488	98.97	gold quality
right lung	UBERON:0002167	98.81	gold quality
transverse colon	UBERON:0001157	98.70	gold quality
granulocyte	CL:0000094	98.67	gold quality
metanephros cortex	UBERON:0010533	98.66	gold quality
ectocervix	UBERON:0012249	98.66	gold quality
gall bladder	UBERON:0002110	98.64	gold quality
upper lobe of left lung	UBERON:0008952	98.49	gold quality
apex of heart	UBERON:0002098	98.35	gold quality
small intestine	UBERON:0002108	98.35	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.11	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.02	gold quality
mucosa of stomach	UBERON:0001199	98.01	gold quality
omental fat pad	UBERON:0010414	97.91	gold quality
peritoneum	UBERON:0002358	97.83	gold quality
rectum	UBERON:0001052	97.79	gold quality
lower esophagus mucosa	UBERON:0035834	97.76	gold quality
right atrium auricular region	UBERON:0006631	97.74	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.65	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.50
E-MTAB-7381	no	511.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting MYO15B, 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-6748-5P	100.00	65.81	1057
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-299-3P	97.73	66.67	773
HSA-MIR-5196-3P	97.57	65.98	979
HSA-MIR-6781-5P	94.61	59.49	155

Literature-anchored findings (GeneRIF, showing 1)

• myosin XVBP is a transcribed pseudogene (myosin XVBP=MYO15BP) (PMID:11964073)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo15b	ENSDARG00000074852
mus_musculus	Myo15b	ENSMUSG00000034427
rattus_norvegicus	Myo15b	ENSRNOG00000042445

Protein

Protein identifiers

Unconventional myosin-XVB — Q96JP2 (reviewed: Q96JP2)

Alternative names: Myosin XVBP, Unconventional myosin-15B

All UniProt accessions (17): Q96JP2, A0A0J9YVN6, A0A0J9YW04, A0A0J9YW50, A0A0J9YWC2, A0A0J9YX32, A0A0J9YXA6, A0A0J9YXD6, A0A0J9YXG9, A0A0J9YXP9, A0A0J9YXR1, A0A0J9YY01, A0A0J9YYB3, A0A0J9YYJ7, A0A286YF23, A0A8I5KYR5, A0A994J4K4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Detected in brain, stomach and kidney.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q96JP2-1	1	yes
Q96JP2-2	2

RefSeq proteins (2): NP_001296171, NP_001381987* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000299	FERM_domain	Domain
IPR000857	MyTH4_dom	Domain
IPR001452	SH3_domain	Domain
IPR001609	Myosin_head_motor_dom-like	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035489	MYO15B_SH3	Domain
IPR035963	FERM_2	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR038185	MyTH4_dom_sf	Homologous_superfamily
IPR041795	MyoXV_FERM_C	Domain
IPR051567	Unconventional_Myosin_ATPase	Family
IPR059004	MYO15	Domain

Pfam: PF00063, PF00373, PF00784, PF07653, PF26570

UniProt features (50 total): compositionally biased region 17, region of interest 9, sequence conflict 7, domain 6, strand 6, splice variant 2, chain 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DLP	SOLUTION NMR

Predicted structure (AlphaFold)

No AlphaFold model available for Q96JP2 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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): 818–825

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 77 (showing top): BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_95, PARENT_MTOR_SIGNALING_UP, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, LIU_PROSTATE_CANCER_DN, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_UP, HUTTMANN_B_CLL_POOR_SURVIVAL_UP, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, PURBEY_TARGETS_OF_CTBP1_NOT_SATB1_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MODULE_163, CAMP_UP.V1_DN, JAK2_DN.V1_DN, CBX5_TARGET_GENES, E2F2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (5): cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), brush border (GO:0005903), myosin complex (GO:0016459), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
molecular_function	1
cytoskeletal protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
microvillus	1
apical part of cell	1
cluster of actin-based cell projections	1
actin cytoskeleton	1
protein-containing complex	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

980 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO15B	HRCT1	Q6UXD1	560
MYO15B	SPACA6	W5XKT8	543
MYO15B	CCDC177	Q9NQR7	537
MYO15B	A0A0G2JMU2	A0A0G2JMU2	519
MYO15B	OR7E24	Q6IFN5	499
MYO15B	POTEB3	A0JP26	495
MYO15B	MAGEB6B	A0A0J9YX57	480
MYO15B	GPSM1	Q86YR5	474
MYO15B	FOXN4	Q96NZ1	453
MYO15B	TEKT5	Q96M29	445
MYO15B	SERINC4	A6NH21	431
MYO15B	ESX1	Q8N693	431
MYO15B	CIMIP2A	Q6J272	418
MYO15B	PDHA1	P08559	410
MYO15B	ATXN2	Q99700	402

IntAct

258 interactions, top by confidence:

A	B	Type	Score
MYO15B	GADD45GIP1	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	RCN1	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	MYOZ3	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ERAS	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ZBTB32	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	NUP62	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	KLHL12	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ZNF774	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ZBTB3	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	CRX	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	SSBP4	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	POU6F2	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	KRT75	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ZBED1	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	KRT35	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	GPRASP3	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ZNF837	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	IHO1	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	KCNJ6	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	REL	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	PAK5	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	PKNOX2	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	NADSYN1	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ZBTB8A	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	ZBTB10	psi-mi:“MI:0915”(physical association)	0.560

ESM2 similar proteins: A1L0T3, A1L4H1, A6QNY1, D3YZF7, O95428, P28698, P30203, P55068, P55106, P59222, P98162, Q04756, Q14767, Q28019, Q28062, Q28256, Q28343, Q28670, Q3U515, Q4G0T1, Q5F378, Q5HZW5, Q61003, Q61361, Q6H9L7, Q6KF10, Q6PGE4, Q6QNF4, Q7TQH7, Q7Z4F1, Q86T13, Q86VR7, Q86VZ4, Q8BV57, Q8BZE1, Q8CB67, Q8VCP9, Q8WTU2, Q91V98, Q96DN2

Diamond homologs: A0MP03, A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A6SED8, A6ZZJ1, A8N2Y6, B0I1T2, B0Y9Q4, D3ZJP6, E9Q634, F4HWY6, F4HXP9, F4I460, F4I507, F4I5Q6, F4IRU3, F4IUG9, F4IVR7, F4JIU4, F4JM19, F4K0A6, F4K5J1, F8VQB6, K7U9N8, O00159, O00160, O43795, O74805, P05659, P08799, P12883, P14105, P19524, P19706, P34092, P35579, P35580

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 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
intermediate filament organization	5	15.8×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

11162 predictions. Top by Δscore:

Variant	Effect	Δscore
17:75590215:G:GT	donor_gain	1.0000
17:75590696:G:T	donor_gain	1.0000
17:75591614:A:AG	acceptor_gain	1.0000
17:75591615:G:GG	acceptor_gain	1.0000
17:75592077:AGCA:A	donor_gain	1.0000
17:75592078:GCA:G	donor_gain	1.0000
17:75592078:GCAG:G	donor_gain	1.0000
17:75592081:G:GG	donor_gain	1.0000
17:75592236:A:AG	acceptor_gain	1.0000
17:75592236:AGAG:A	acceptor_gain	1.0000
17:75592236:AGAGG:A	acceptor_gain	1.0000
17:75592237:G:GG	acceptor_gain	1.0000
17:75592237:GA:G	acceptor_gain	1.0000
17:75592237:GAGG:G	acceptor_gain	1.0000
17:75592237:GAGGG:G	acceptor_gain	1.0000
17:75592461:A:AG	acceptor_gain	1.0000
17:75592462:A:G	acceptor_gain	1.0000
17:75592600:G:GT	donor_gain	1.0000
17:75592836:CAGAG:C	donor_loss	1.0000
17:75592838:GAG:G	donor_gain	1.0000
17:75592838:GAGGT:G	donor_loss	1.0000
17:75592839:AG:A	donor_loss	1.0000
17:75592840:GGT:G	donor_loss	1.0000
17:75592841:G:T	donor_loss	1.0000
17:75592842:T:A	donor_loss	1.0000
17:75594965:GCTT:G	donor_gain	1.0000
17:75594998:A:T	donor_gain	1.0000
17:75596456:CCA:C	acceptor_loss	1.0000
17:75596457:CAGG:C	acceptor_loss	1.0000
17:75596458:A:AG	acceptor_gain	1.0000

AlphaMissense

19906 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:75614224:T:A	W690R	0.992
17:75614224:T:C	W690R	0.992
17:75619430:C:A	A1320D	0.989
17:75601525:T:C	F146L	0.988
17:75601527:C:A	F146L	0.988
17:75601527:C:G	F146L	0.988
17:75602526:T:C	F162L	0.988
17:75602528:T:A	F162L	0.988
17:75602528:T:G	F162L	0.988
17:75602527:T:C	F162S	0.987
17:75617919:G:C	K1249N	0.987
17:75617919:G:T	K1249N	0.987
17:75601526:T:C	F146S	0.986
17:75619433:G:C	R1321P	0.986
17:75619441:T:A	W1324R	0.986
17:75619441:T:C	W1324R	0.986
17:75613293:G:C	K597N	0.985
17:75613293:G:T	K597N	0.985
17:75613294:T:C	F598L	0.985
17:75613296:C:A	F598L	0.985
17:75613296:C:G	F598L	0.985
17:75617915:G:C	R1248P	0.984
17:75613300:T:C	S600P	0.983
17:75613333:T:C	C611R	0.983
17:75613734:T:A	W667R	0.983
17:75613734:T:C	W667R	0.983
17:75613085:A:C	S556R	0.982
17:75613087:C:A	S556R	0.982
17:75613087:C:G	S556R	0.982
17:75613142:T:A	W575R	0.982

dbSNP variants (sampled 300 via entrez): RS1000125398 (17:75603966 G>A,C), RS1000126605 (17:75602745 G>A), RS1000285813 (17:75597416 C>A), RS1000355611 (17:75626120 G>A), RS1000436977 (17:75592485 A>G), RS1000480819 (17:75599624 A>C,G), RS1000497609 (17:75604209 A>G), RS1000569402 (17:75616597 T>C), RS1000645401 (17:75612433 G>A), RS1000687236 (17:75594778 G>A), RS1000756248 (17:75593254 A>G), RS1000834929 (17:75589668 G>A,T), RS1000977983 (17:75606725 A>G), RS1000988877 (17:75618690 T>C), RS1001056833 (17:75601861 C>T)

Disease associations

OMIM: gene MIM:620915 | disease phenotypes: MIM:117000

GenCC curated gene-disease

Mondo (1): congenital myopathy (MONDO:0019952)

Orphanet (1): Congenital myopathy (Orphanet:97245)

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Acetaminophen	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
sotorasib	affects cotreatment, decreases expression	1
bisphenol A	increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
aflatoxin B2	decreases methylation	1
1-hydroxypyrene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	increases expression	1
trametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Amphotericin B	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Nickel	decreases expression	1
Ozone	increases abundance, affects expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases expression, increases methylation	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02020187	Not specified	COMPLETED	Aerobic Training in Patients With Congenital Myopathies
NCT03018184	Not specified	COMPLETED	Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies
NCT04733976	Not specified	COMPLETED	Bullying in Youth With Muscular Dystrophy and Congenital Myopathies
NCT05099107	Not specified	COMPLETED	Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
NCT05199246	Not specified	COMPLETED	Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders
NCT05200702	Not specified	COMPLETED	Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders
NCT05692349	Not specified	UNKNOWN	Magnetic Resonance Imaging and Ultrasonography in Evaluation of Muscle Diseases
NCT06791369	Not specified	NOT_YET_RECRUITING	The Prevalence of RYR1-related Disease
NCT06833489	Not specified	RECRUITING	Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
NCT07138963	Not specified	RECRUITING	Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
NCT07415837	Not specified	RECRUITING	Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies
NCT07502989	Not specified	RECRUITING	Muscle Health Measurements Using Electrical Impedance Myography
NCT07580365	Not specified	NOT_YET_RECRUITING	VirtualPark_Pediatric