MRPL50

Summary

MRPL50 (mitochondrial ribosomal protein L50, HGNC:16654) is a protein-coding gene on chromosome 9q31.1, encoding Large ribosomal subunit protein mL50 (Q8N5N7). It is a selective cancer dependency (DepMap: 49.9% of cell lines).

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q.

Source: NCBI Gene 54534 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Moderate, GenCC)
• Clinical variants (ClinVar): 34 total — 1 pathogenic, 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 49.9% of screened cell lines
• MANE Select transcript: NM_019051

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16654
Approved symbol	MRPL50
Name	mitochondrial ribosomal protein L50
Location	9q31.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20493, MRP-L50, mL50
Ensembl gene	ENSG00000136897
Ensembl biotype	protein_coding
OMIM	611854
Entrez	54534

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000374865

RefSeq mRNA: 1 — MANE Select: NM_019051 NM_019051

CCDS: CCDS6753

Canonical transcript exons

ENST00000374865 — 2 exons

Exon	Start	End
ENSE00001464875	101387633	101390850
ENSE00001464876	101398501	101398618

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 96.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.1272 / max 468.4669, expressed in 1790 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101738	22.1507	1784
101739	1.8860	1189
101740	0.0905	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	96.08	gold quality
oviduct epithelium	UBERON:0004804	95.91	gold quality
myocardium	UBERON:0002349	95.19	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.77	gold quality
epithelial cell of pancreas	CL:0000083	94.67	gold quality
vena cava	UBERON:0004087	93.01	gold quality
oocyte	CL:0000023	92.79	gold quality
heart right ventricle	UBERON:0002080	91.97	gold quality
adrenal tissue	UBERON:0018303	91.75	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.59	gold quality
vastus lateralis	UBERON:0001379	91.25	gold quality
quadriceps femoris	UBERON:0001377	90.37	gold quality
body of tongue	UBERON:0011876	90.14	gold quality
cardia of stomach	UBERON:0001162	89.85	gold quality
epithelium of nasopharynx	UBERON:0001951	89.71	gold quality
pericardium	UBERON:0002407	89.70	gold quality
deltoid	UBERON:0001476	89.21	gold quality
tongue	UBERON:0001723	88.92	gold quality
pylorus	UBERON:0001166	88.81	gold quality
secondary oocyte	CL:0000655	88.75	gold quality
biceps brachii	UBERON:0001507	88.62	gold quality
islet of Langerhans	UBERON:0000006	88.61	gold quality
synovial joint	UBERON:0002217	88.22	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	88.15	gold quality
upper arm skin	UBERON:0004263	88.06	gold quality
sperm	CL:0000019	88.02	gold quality
penis	UBERON:0000989	88.01	gold quality
skeletal muscle tissue	UBERON:0001134	87.94	gold quality
muscle tissue	UBERON:0002385	87.76	gold quality
gingival epithelium	UBERON:0001949	87.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	120.58
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting MRPL50, 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-5696	99.98	72.36	4487
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-3925-5P	99.21	67.90	1466
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-629-5P	98.78	68.72	1032

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 49.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency. (PMID:37148394)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mrpl50	ENSMUSG00000044018
rattus_norvegicus	Mrpl50	ENSRNOG00000068816
drosophila_melanogaster	mRpL50	FBGN0028648
caenorhabditis_elegans		WBGENE00011883

Protein

Protein identifiers

Large ribosomal subunit protein mL50 — Q8N5N7 (reviewed: Q8N5N7)

Alternative names: 39S ribosomal protein L50, mitochondrial

All UniProt accessions (1): Q8N5N7

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

Subcellular location. Mitochondrion.

Similarity. Belongs to the mitochondrion-specific ribosomal protein mL50 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N5N7-1	1	yes
Q8N5N7-2	2

RefSeq proteins (1): NP_061924* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018305	Ribosomal_m50	Family

Pfam: PF10501

UniProt features (11 total): helix 6, chain 1, splice variant 1, strand 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

85 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7OF0	ELECTRON MICROSCOPY	2.2
7QI4	ELECTRON MICROSCOPY	2.21
8RRI	ELECTRON MICROSCOPY	2.4
8QU5	ELECTRON MICROSCOPY	2.42
9OLF	ELECTRON MICROSCOPY	2.46
7OF7	ELECTRON MICROSCOPY	2.5
7PO4	ELECTRON MICROSCOPY	2.56
6ZM6	ELECTRON MICROSCOPY	2.59
7O9M	ELECTRON MICROSCOPY	2.6
7OF6	ELECTRON MICROSCOPY	2.6
9CN3	ELECTRON MICROSCOPY	2.62
7QI5	ELECTRON MICROSCOPY	2.63
7OF2	ELECTRON MICROSCOPY	2.7
7OF3	ELECTRON MICROSCOPY	2.7
7OF4	ELECTRON MICROSCOPY	2.7
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
8ANY	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7QH7	ELECTRON MICROSCOPY	2.89
7ODR	ELECTRON MICROSCOPY	2.9
7OF5	ELECTRON MICROSCOPY	2.9
8K2A	ELECTRON MICROSCOPY	2.9
8OIT	ELECTRON MICROSCOPY	2.9
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98
9PSM	ELECTRON MICROSCOPY	2.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5N7-F1	80.16	0.64

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-5368286	Mitochondrial translation initiation
R-HSA-5389840	Mitochondrial translation elongation
R-HSA-5419276	Mitochondrial translation termination
R-HSA-9937383	Mitochondrial ribosome-associated quality control
R-HSA-392499	Metabolism of proteins
R-HSA-5368287	Mitochondrial translation
R-HSA-72766	Translation

MSigDB gene sets: 113 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, RRAGTTGT_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, AACWWCAANK_UNKNOWN, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, TGGNNNNNNKCCAR_UNKNOWN, ACEVEDO_LIVER_CANCER_UP, MODULE_95

GO Biological Process (1): mitochondrial translation (GO:0032543)

GO Molecular Function (0):

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), cytosol (GO:0005829), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Mitochondrial translation	4
Translation	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
mitochondrion	1
translation	1
mitochondrial gene expression	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
organellar large ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
cellular anatomical structure	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

1586 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPL50	MRPS18C	Q9Y3D5	648
MRPL50	ZNF189	O75820	624
MRPL50	MRPL53	Q96EL3	570
MRPL50	PLPPR1	Q8TBJ4	559
MRPL50	MRPL51	Q4U2R6	510
MRPL50	NDUFA12	Q9UI09	504
MRPL50	COQ7	Q99807	485
MRPL50	MRPL47	Q9HD33	483
MRPL50	NDUFA2	O43678	481
MRPL50	MRPS33	Q9Y291	476
MRPL50	MRPS14	O60783	470
MRPL50	NDUFA13	Q9P0J0	458
MRPL50	MRPL46	Q9H2W6	445
MRPL50	COQ5	Q5HYK3	444
MRPL50	ATP5PB	P24539	426

IntAct

93 interactions, top by confidence:

A	B	Type	Score
TPM4	TPM3	psi-mi:“MI:0914”(association)	0.670
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL42	GATC	psi-mi:“MI:0914”(association)	0.530
H2AC20	PPM1G	psi-mi:“MI:0914”(association)	0.530
PDGFB	DKC1	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL27	MRPL33	psi-mi:“MI:0914”(association)	0.530
NDUFAB1	MIEF1	psi-mi:“MI:0915”(physical association)	0.490
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
Ttll12	TPM1	psi-mi:“MI:0914”(association)	0.350
MRPL50	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL9	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL1	MRPL43	psi-mi:“MI:0914”(association)	0.350
FOXB1	DDX39A	psi-mi:“MI:0914”(association)	0.350
NP	KPNA6	psi-mi:“MI:0914”(association)	0.350
NP	TRIM66	psi-mi:“MI:0914”(association)	0.350
COX15	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
ALYREF		psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
MRPL34	IPO5	psi-mi:“MI:0914”(association)	0.350
ATAD3A	TMEM223	psi-mi:“MI:0914”(association)	0.350
DUSP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (394): MRPL50 (Affinity Capture-MS), MRPL50 (Affinity Capture-MS), MRPL50 (Affinity Capture-MS), MRPL50 (Affinity Capture-MS), MRPL50 (Affinity Capture-MS), MRPL50 (Affinity Capture-MS), MRPL49 (Affinity Capture-MS), SLC25A10 (Affinity Capture-MS), HNRNPU (Affinity Capture-MS), ICT1 (Affinity Capture-MS), OXA1L (Affinity Capture-MS), MRPL23 (Affinity Capture-MS), MRPL12 (Affinity Capture-MS), TLN1 (Affinity Capture-MS), TST (Affinity Capture-MS)

ESM2 similar proteins: A1L1P7, A6ZND9, A6ZSH0, B0BN56, B3LIY9, B3LPE4, B5VQB0, C5DKM2, D3ZYW7, F4I9Q5, O14320, O35658, O35796, O35943, O49196, P37841, P42797, P42844, P49727, P51132, P51133, P51135, P82928, Q01607, Q04907, Q05B87, Q07021, Q08230, Q09759, Q0IH40, Q16595, Q1JPN0, Q2KI49, Q3T0B6, Q5REH5, Q84WZ8, Q8HXX9, Q8N5N7, Q8VZE7, Q94JS0

Diamond homologs: Q2KI49, Q5REH5, Q5ZLC1, Q8N5N7, Q8VDT9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPL50	“form complex”	“39S mitochondrial large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 98 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
Mitochondrial ribosome-associated quality control	27	50.2×	4e-38
Mitochondrial translation initiation	25	48.1×	6e-35
Mitochondrial translation elongation	25	48.1×	6e-35
Mitochondrial translation	23	48.0×	4e-32
Mitochondrial translation termination	25	41.6×	3e-33
Translation	25	23.5×	9e-27
Peptide chain elongation	5	9.6×	5e-03
Viral mRNA Translation	5	9.6×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	27	55.2×	3e-38
translation	19	23.0×	1e-18

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	24
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
997816	Single allele	Pathogenic
1809800	NM_019051.3(MRPL50):c.335T>A (p.Val112Asp)	Likely pathogenic

SpliceAI

290 predictions. Top by Δscore:

Variant	Effect	Δscore
9:101390846:CTTTT:C	acceptor_gain	1.0000
9:101390849:TTC:T	acceptor_loss	1.0000
9:101390850:TCT:T	acceptor_loss	1.0000
9:101390851:C:CC	acceptor_gain	1.0000
9:101390851:CTGGA:C	acceptor_loss	1.0000
9:101390861:C:CT	acceptor_gain	1.0000
9:101390862:A:T	acceptor_gain	1.0000
9:101390847:TTTT:T	acceptor_gain	0.9900
9:101390848:TTT:T	acceptor_gain	0.9900
9:101390849:TT:T	acceptor_gain	0.9900
9:101390856:A:AC	acceptor_gain	0.9900
9:101390856:A:C	acceptor_gain	0.9900
9:101393286:AAAG:A	donor_gain	0.9900
9:101398498:TA:T	donor_loss	0.9900
9:101398500:C:T	donor_loss	0.9900
9:101393294:T:A	donor_gain	0.9800
9:101398533:C:A	donor_gain	0.9700
9:101398542:TGTC:T	donor_gain	0.9700
9:101390859:A:C	acceptor_gain	0.9600
9:101393616:A:AC	acceptor_gain	0.9200
9:101393617:C:CC	acceptor_gain	0.9200
9:101398526:A:C	donor_gain	0.9200
9:101393618:A:C	acceptor_gain	0.9100
9:101397197:ACC:A	donor_gain	0.9100
9:101397198:CCC:C	donor_gain	0.9100
9:101398499:A:AC	donor_gain	0.9100
9:101398500:C:CC	donor_gain	0.9100
9:101393614:A:T	acceptor_gain	0.9000
9:101398497:TTA:T	donor_gain	0.9000
9:101398496:TTTA:T	donor_gain	0.8900

AlphaMissense

1029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:101390608:A:T	V112D	0.989
9:101390556:G:C	F129L	0.971
9:101390556:G:T	F129L	0.971
9:101390558:A:G	F129L	0.971
9:101390649:G:C	F98L	0.945
9:101390649:G:T	F98L	0.945
9:101390651:A:G	F98L	0.945
9:101390482:A:G	I154T	0.943
9:101390566:A:T	V126D	0.942
9:101390652:C:A	K97N	0.940
9:101390652:C:G	K97N	0.940
9:101390644:A:G	L100P	0.923
9:101390601:G:C	N114K	0.920
9:101390601:G:T	N114K	0.920
9:101390555:A:C	Y130D	0.913
9:101390482:A:C	I154S	0.910
9:101390488:A:G	L152S	0.902
9:101390557:A:G	F129S	0.898
9:101390687:A:G	W86R	0.891
9:101390687:A:T	W86R	0.891
9:101390608:A:C	V112G	0.886
9:101390765:A:C	Y60D	0.885
9:101390641:A:T	L101Q	0.882
9:101390490:A:C	N151K	0.877
9:101390490:A:T	N151K	0.877
9:101390575:A:T	V123D	0.875
9:101390593:A:G	L117P	0.873
9:101390477:A:G	W156R	0.861
9:101390477:A:T	W156R	0.861
9:101390630:C:G	A105P	0.858

dbSNP variants (sampled 300 via entrez): RS1000028563 (9:101397664 T>A,C), RS1000135054 (9:101392178 G>C), RS1000159952 (9:101393290 C>G,T), RS1000289701 (9:101397402 T>C), RS1000373237 (9:101390418 T>A,C), RS1000622401 (9:101396318 G>A,C), RS1000846645 (9:101392200 T>C), RS1001178993 (9:101396350 C>A), RS1001181821 (9:101396904 T>C,G), RS1001198910 (9:101389811 A>T), RS1001251301 (9:101390127 G>A), RS1001699111 (9:101396635 A>G), RS1002146105 (9:101389011 AAT>A), RS1002195319 (9:101400381 G>C), RS1002204684 (9:101391040 A>G)

Disease associations

OMIM: gene MIM:611854 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial disease	Moderate	Autosomal recessive

Mondo (2): intellectual disability (MONDO:0001071), mitochondrial disease (MONDO:0044970)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, decreases expression	4
sodium arsenite	affects cotreatment, decreases expression	3
Tretinoin	affects cotreatment, decreases expression	3
trichostatin A	affects cotreatment, decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
arsenite	increases reaction, affects binding	1
ochratoxin A	decreases expression	1
resorcinol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
chloropicrin	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases methylation	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ethyl Methanesulfonate	decreases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	increases expression	1
Methyl Methanesulfonate	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3BA	Abcam HEK293T MRPL50 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03351998	PHASE4	COMPLETED	Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00432744	PHASE3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT06451757	PHASE3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02398201	PHASE2	COMPLETED	A Study of Bezafibrate in Mitochondrial Myopathy
NCT02473445	PHASE2	TERMINATED	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT02805790	PHASE2	COMPLETED	Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
NCT02909400	PHASE2	COMPLETED	The KHENERGY Study
NCT02976038	PHASE2	TERMINATED	Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
NCT03177798	PHASE2	COMPLETED	Mitochondria and Chronic Kidney Disease
NCT03866954	PHASE2	WITHDRAWN	Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy
NCT04165239	PHASE2	COMPLETED	The KHENERGYZE Study
NCT04604548	PHASE2	COMPLETED	The KHENEREXT Study
NCT04802707	PHASE2	RECRUITING	Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
NCT04846036	PHASE2	SUSPENDED	The KHENERGYC Study
NCT05650229	PHASE2	RECRUITING	Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05972954	PHASE2	COMPLETED	OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
NCT06017869	PHASE2	RECRUITING	Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
NCT07514338	PHASE2	NOT_YET_RECRUITING	Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00060515	PHASE1	TERMINATED	RG2133 (2’,3’,5’-Tri-O-Acetyluridine) in Mitochondrial Disease
NCT02348125	PHASE1	UNKNOWN	Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT03888716	PHASE1	COMPLETED	A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
NCT04086329	PHASE1	RECRUITING	Validation of Oxygen Nanosensor in Mitochondrial Myopathy
NCT04643249	PHASE1	COMPLETED	Drug-drug Interaction Study of KL1333 in Healthy Subjects
NCT05241262	PHASE1	RECRUITING	Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
NCT05569122	PHASE1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	PHASE1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT07258667	PHASE1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities