UQCRQ

Summary

UQCRQ (ubiquinol-cytochrome c reductase complex III subunit VII, HGNC:29594) is a protein-coding gene on chromosome 5q31.1, encoding Cytochrome b-c1 complex subunit 8 (O14949). Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. It is a selective cancer dependency (DepMap: 46.7% of cell lines).

This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain.

Source: NCBI Gene 27089 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial complex III deficiency nuclear type 4 (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 65 total
• Phenotypes (HPO): 16
• Cancer dependency (DepMap): dependent in 46.7% of screened cell lines
• MANE Select transcript: NM_014402

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29594
Approved symbol	UQCRQ
Name	ubiquinol-cytochrome c reductase complex III subunit VII
Location	5q31.1
Locus type	gene with protein product
Status	Approved
Aliases	QP-C, QCR8, UQCR7
Ensembl gene	ENSG00000164405
Ensembl biotype	protein_coding
OMIM	612080
Entrez	27089

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000378665, ENST00000378667, ENST00000378670, ENST00000480372, ENST00000496429, ENST00000498309, ENST00000897991, ENST00000897992, ENST00000897993, ENST00000897994, ENST00000897995, ENST00000927536, ENST00000927537, ENST00000927538, ENST00000927539

RefSeq mRNA: 1 — MANE Select: NM_014402 NM_014402

CCDS: CCDS34237

Canonical transcript exons

ENST00000378670 — 3 exons

Exon	Start	End
ENSE00001084104	132866869	132867035
ENSE00001478312	132867488	132868847
ENSE00001813218	132866642	132866687

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 156.2367 / max 859.1515, expressed in 1827 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58507	156.2367	1827

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.74	gold quality
body of tongue	UBERON:0011876	99.66	gold quality
cardiac ventricle	UBERON:0002082	99.65	gold quality
heart left ventricle	UBERON:0002084	99.65	gold quality
renal medulla	UBERON:0000362	99.63	gold quality
mucosa of transverse colon	UBERON:0004991	99.61	gold quality
tongue	UBERON:0001723	99.53	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.53	gold quality
vena cava	UBERON:0004087	99.53	gold quality
pharyngeal mucosa	UBERON:0000355	99.49	gold quality
heart	UBERON:0000948	99.49	gold quality
right atrium auricular region	UBERON:0006631	99.48	gold quality
right lobe of liver	UBERON:0001114	99.45	gold quality
gastrocnemius	UBERON:0001388	99.45	gold quality
pylorus	UBERON:0001166	99.44	gold quality
heart right ventricle	UBERON:0002080	99.44	gold quality
cardiac atrium	UBERON:0002081	99.44	gold quality
left ventricle myocardium	UBERON:0006566	99.43	gold quality
diaphragm	UBERON:0001103	99.42	gold quality
superior surface of tongue	UBERON:0007371	99.41	gold quality
pons	UBERON:0000988	99.40	gold quality
right adrenal gland	UBERON:0001233	99.37	gold quality
muscle of leg	UBERON:0001383	99.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.37	gold quality
substantia nigra pars compacta	UBERON:0001965	99.36	gold quality
cardia of stomach	UBERON:0001162	99.35	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.35	gold quality
superior vestibular nucleus	UBERON:0007227	99.35	gold quality
adrenal cortex	UBERON:0001235	99.34	gold quality
left adrenal gland	UBERON:0001234	99.33	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	3203.71
E-HCAD-1	yes	85.08
E-MTAB-8410	yes	56.10
E-MTAB-9467	yes	34.70
E-MTAB-10553	yes	33.59
E-HCAD-10	yes	32.20
E-MTAB-7316	yes	23.99
E-GEOD-84465	yes	21.89
E-CURD-122	yes	16.74
E-MTAB-6701	yes	15.87
E-MTAB-7303	no	3350.29
E-CURD-135	no	464.07
E-MTAB-6524	no	288.36
E-HCAD-8	no	43.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, MSC, NCOR1, NFYA, NFYB, NR5A2

miRNA regulators (miRDB)

68 targeting UQCRQ, 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-4776-3P	100.00	68.73	1340
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-5690	99.25	67.58	1012
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 46.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• We thus suggest that a homozygous mutation in UQCRQ is associated with defective function of mitochondrial complex III, leading to a severe autosomal-recessive neurological phenotype. (PMID:18439546)
• Decreased electron Transport Complex III activity is associated with ulcerative colitis. (PMID:20440543)
• QP-C protein gene expression involved in the development of hyperpigmentation. (PMID:25950827)
• Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis. (PMID:35877019)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	uqcrq	ENSDARG00000029064
mus_musculus	Uqcrq	ENSMUSG00000044894
rattus_norvegicus	Uqcrq	ENSRNOG00000067979
drosophila_melanogaster	UQCR-Q	FBGN0036728
caenorhabditis_elegans		WBGENE00009739
caenorhabditis_elegans		WBGENE00019937

Protein

Protein identifiers

Cytochrome b-c1 complex subunit 8 — O14949 (reviewed: O14949)

Alternative names: Complex III subunit 8, Complex III subunit VIII, Ubiquinol-cytochrome c reductase complex 9.5 kDa protein, Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C

All UniProt accessions (1): O14949

UniProt curated annotations — full annotation on UniProt →

Function. Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c.

Subunit / interactions. Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1. The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)). Interacts with UQCC6.

Subcellular location. Mitochondrion inner membrane.

Disease relevance. Mitochondrial complex III deficiency, nuclear type 4 (MC3DN4) [MIM:615159] A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the UQCRQ/QCR8 family.

RefSeq proteins (1): NP_055217* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004205	Cyt_bc1_su8	Family
IPR036642	Cyt_bc1_su8_sf	Homologous_superfamily

Pfam: PF02939

UniProt features (13 total): helix 3, modified residue 3, topological domain 2, initiator methionine 1, chain 1, transmembrane region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9HZL	ELECTRON MICROSCOPY	2.52
9CG3	ELECTRON MICROSCOPY	2.96
5XTE	ELECTRON MICROSCOPY	3.4
5XTH	ELECTRON MICROSCOPY	3.9
5XTI	ELECTRON MICROSCOPY	17.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14949-F1	94.62	0.88

Functional residue map

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

Post-translational modifications (3): 16, 33, 33

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-611105	Respiratory electron transport
R-HSA-9837999	Mitochondrial protein degradation
R-HSA-9865881	Complex III assembly

MSigDB gene sets: 0 (showing top):

GO Biological Process (10): mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122), subthalamus development (GO:0021539), pons development (GO:0021548), cerebellar Purkinje cell layer development (GO:0021680), hippocampus development (GO:0021766), thalamus development (GO:0021794), hypothalamus development (GO:0021854), pyramidal neuron development (GO:0021860), midbrain development (GO:0030901), cellular respiration (GO:0045333)

GO Molecular Function (0):

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), respiratory chain complex III (GO:0045275), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Aerobic respiration and respiratory electron transport	1
Metabolism of proteins	1
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	7
diencephalon development	3
limbic system development	2
aerobic electron transport chain	1
mitochondrial ATP synthesis coupled electron transport	1
metencephalon development	1
cerebellar cortex development	1
pallium development	1
pyramidal neuron differentiation	1
forebrain neuron development	1
brain development	1
energy derivation by oxidation of organic compounds	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
cytochrome complex	1
respiratory chain complex	1
transmembrane transporter complex	1
oxidoreductase complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UQCRQ	UQCRB	P14927	998
UQCRQ	MT-CYB	P00156	968
UQCRQ	BCS1L	Q9Y276	935
UQCRQ	UQCR10	Q9UDW1	933
UQCRQ	UQCRC1	P31930	912
UQCRQ	NDUFA11	Q86Y39	909
UQCRQ	UQCRC2	P22695	899
UQCRQ	UQCRH	P07919	884
UQCRQ	NDUFB4	O95168	839
UQCRQ	UQCRFS1	P47985	833
UQCRQ	UQCR11	O14957	806
UQCRQ	CYC1	P08574	773
UQCRQ	NDUFB7	P17568	741
UQCRQ	COX5A	P20674	716
UQCRQ	COXFA4	O00483	703

IntAct

69 interactions, top by confidence:

A	B	Type	Score
UQCRC1	UQCRQ	psi-mi:“MI:0915”(physical association)	0.740
UQCRQ	COX7A2L	psi-mi:“MI:0914”(association)	0.640
UQCRB	COX7A2L	psi-mi:“MI:0914”(association)	0.640
UQCRH	COX7A2L	psi-mi:“MI:0914”(association)	0.640
UQCRH	DCTN6	psi-mi:“MI:0914”(association)	0.530
SPPL2B	UQCRQ	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
CDC73	SCAMP3	psi-mi:“MI:0914”(association)	0.350
RAB7A		psi-mi:“MI:0914”(association)	0.350
Dctn1	DERL1	psi-mi:“MI:0914”(association)	0.350
HNRNPA1L2	STX18	psi-mi:“MI:0914”(association)	0.350
XRCC3	DERL1	psi-mi:“MI:0914”(association)	0.350
TMEM248	TAF1	psi-mi:“MI:0914”(association)	0.350
NLRP3	PHRF1	psi-mi:“MI:0914”(association)	0.350
GOLT1B		psi-mi:“MI:0914”(association)	0.350
HAUS2	SCAMP3	psi-mi:“MI:0914”(association)	0.350
PML	ATP5MF-PTCD1	psi-mi:“MI:0914”(association)	0.350
K8.1	EXOC5	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
NMES1	NDUFS8	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NUDT19	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
NMES1	COX7A2L	psi-mi:“MI:0914”(association)	0.350

BioGRID (213): UQCRQ (Affinity Capture-MS), UQCRQ (Affinity Capture-MS), UQCRQ (Affinity Capture-MS), UQCRQ (Affinity Capture-MS), UQCRQ (Affinity Capture-MS), ACAT1 (Co-fractionation), ALDH1B1 (Co-fractionation), ALDH3A2 (Co-fractionation), ATP2A2 (Co-fractionation), ATP5C1 (Co-fractionation), CPT2 (Co-fractionation), DDOST (Co-fractionation), GPD2 (Co-fractionation), ILVBL (Co-fractionation), IMMT (Co-fractionation)

ESM2 similar proteins: A0A1D8PDP8, A0A1D8PHA2, A3LWK1, A5DLM7, A5E7J0, A5Z2X5, A6ZPQ9, A7TQM5, B3LQ47, B9WK46, C0HK62, C0HK65, C4R127, C4YBX9, C4YTL7, C7GR49, C8ZBF1, G2TRP5, G2TRT6, O13931, O14949, O42999, O74433, O74471, O94705, P08525, P10174, P13271, P37299, P90921, Q18803, Q20779, Q2L897, Q3E7B2, Q54ND0, Q54QR8, Q54QV8, Q54V76, Q5R597, Q6BL60

Diamond homologs: O14949, P13271, P50523, Q2L897, Q54V76, Q5R597, Q7TQ16, Q9CQ69, A0A1D8PHA2, P08525, P48503, P49346

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
UQCRQ	“form complex”	“CoQ-cytochrome c reductase-Mitochondrial respiratory chain complex III”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 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
Cytoprotection by HMOX1	5	20.0×	4e-04
Respiratory electron transport	8	16.6×	6e-06

GO biological processes:

GO term	Partners	Fold	FDR
cellular respiration	6	39.3×	5e-06

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	45
Likely benign	9
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

385 predictions. Top by Δscore:

Variant	Effect	Δscore
5:132866679:C:G	donor_gain	1.0000
5:132866683:GCCCT:G	donor_gain	1.0000
5:132866688:GTGC:G	donor_gain	1.0000
5:132866690:GC:G	donor_gain	1.0000
5:132866692:G:GG	donor_gain	1.0000
5:132867514:ACAT:A	acceptor_gain	1.0000
5:132867514:ACATG:A	acceptor_gain	1.0000
5:132867516:ATG:A	acceptor_gain	1.0000
5:132867516:ATGGG:A	acceptor_gain	1.0000
5:132866675:C:T	donor_gain	0.9900
5:132866689:TGC:T	donor_gain	0.9900
5:132866690:GCG:G	donor_gain	0.9900
5:132866982:G:GT	donor_gain	0.9900
5:132867010:G:GT	donor_gain	0.9900
5:132867034:GC:G	donor_gain	0.9900
5:132867036:G:GG	donor_gain	0.9900
5:132867477:A:AG	acceptor_gain	0.9900
5:132867514:A:AG	acceptor_gain	0.9900
5:132867516:A:AG	acceptor_gain	0.9900
5:132867516:AT:A	acceptor_gain	0.9900
5:132867516:ATGG:A	acceptor_gain	0.9900
5:132867517:T:G	acceptor_gain	0.9900
5:132867518:G:A	acceptor_gain	0.9900
5:132866670:G:GT	donor_gain	0.9800
5:132866673:G:GT	donor_gain	0.9800
5:132866858:C:CA	acceptor_gain	0.9800
5:132866859:G:A	acceptor_gain	0.9800
5:132866864:TGCAG:T	acceptor_loss	0.9800
5:132866865:GCAGG:G	acceptor_loss	0.9800
5:132866866:CAGGG:C	acceptor_loss	0.9800

AlphaMissense

534 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:132866894:T:C	F5L	0.977
5:132866896:T:A	F5L	0.977
5:132866896:T:G	F5L	0.977
5:132866953:G:C	Q24H	0.944
5:132866953:G:T	Q24H	0.944
5:132866950:G:C	E23D	0.942
5:132866950:G:T	E23D	0.942
5:132866937:T:C	L19S	0.937
5:132867520:G:A	G63R	0.936
5:132867520:G:C	G63R	0.936
5:132866895:T:G	F5C	0.934
5:132866898:G:A	G6E	0.933
5:132866898:G:T	G6V	0.932
5:132866897:G:T	G6W	0.928
5:132867520:G:T	G63W	0.919
5:132867532:T:C	F67L	0.918
5:132867534:C:A	F67L	0.918
5:132867534:C:G	F67L	0.918
5:132867521:G:A	G63E	0.912
5:132867002:C:A	R41S	0.904
5:132867552:G:C	K73N	0.900
5:132867552:G:T	K73N	0.900
5:132866897:G:A	G6R	0.893
5:132866897:G:C	G6R	0.893
5:132867003:G:C	R41P	0.892
5:132866952:A:C	Q24P	0.891
5:132866945:T:C	F22L	0.890
5:132866947:C:A	F22L	0.890
5:132866947:C:G	F22L	0.890
5:132866999:C:A	R40S	0.882

dbSNP variants (sampled 300 via entrez): RS1000389665 (5:132865068 A>G,T), RS1000616233 (5:132866477 C>T), RS1002290601 (5:132867363 T>C), RS1002475617 (5:132867144 C>A,G,T), RS1002622665 (5:132868633 C>T), RS1002846245 (5:132864775 CCT>C), RS1004094815 (5:132868563 T>C), RS1004575169 (5:132865816 G>A), RS1004619838 (5:132865983 A>G), RS1004650852 (5:132865664 G>A), RS1005606518 (5:132868233 G>C), RS1006297725 (5:132866852 C>A), RS1006635395 (5:132868043 T>A), RS1006667922 (5:132867713 G>C), RS1008710235 (5:132865523 G>A,T)

Disease associations

OMIM: gene MIM:612080 | disease phenotypes: MIM:615159

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex III deficiency nuclear type 4	Strong	Autosomal recessive
mitochondrial complex III deficiency	Supportive	Autosomal recessive
Leigh syndrome	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
mitochondrial disease	Limited	AR
Leigh syndrome	Limited	AR

Mondo (3): mitochondrial complex III deficiency nuclear type 4 (MONDO:0014065), Leigh syndrome (MONDO:0009723), mitochondrial complex III deficiency (MONDO:0015448)

Orphanet (0):

HPO phenotypes

16 total (16 of 16 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000711	Restlessness
HP:0001251	Ataxia
HP:0001263	Global developmental delay
HP:0001332	Dystonia
HP:0001344	Absent speech
HP:0001347	Hyperreflexia
HP:0002071	Abnormality of extrapyramidal motor function
HP:0002151	Increased circulating lactate concentration
HP:0002305	Athetosis
HP:0002540	Inability to walk
HP:0003200	Ragged-red muscle fibers
HP:0003593	Infantile onset
HP:0008936	Axial hypotonia
HP:0010864	Severe intellectual disability
HP:0011924	Decreased activity of mitochondrial complex III

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008916_34	Asthma	2.000000e-09

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007888	Leigh Disease	C10.228.140.163.100.412; C16.320.565.189.412; C16.320.565.202.810.444; C18.452.132.100.412; C18.452.648.189.412; C18.452.648.202.810.444; C18.452.660.520

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	4
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	4
bisphenol F	increases expression, affects cotreatment	2
bisphenol A	decreases expression, affects expression	2
tris(2-butoxyethyl) phosphate	increases abundance, increases expression, decreases expression	2
Acetaminophen	affects expression, affects cotreatment, decreases expression	2
Lipopolysaccharides	affects cotreatment, decreases expression, affects expression, affects response to substance	2
Cyclosporine	decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
triphenyl phosphate	affects expression	1
arsenite	increases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
ochratoxin A	increases expression	1
tris(chloroethyl)phosphate	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	increases expression	1
K 7174	decreases expression	1
fenpyroximate	increases expression	1
pyrimidifen	increases expression	1
bisphenol B	increases expression	1
picoxystrobin	increases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
alpha-Chlorohydrin	decreases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Cadmium	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, increases 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_B3KY	Abcam HEK293T UQCRQ KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01721733	PHASE2	COMPLETED	Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
NCT02352896	PHASE2	COMPLETED	Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
NCT03747328	PHASE2	WITHDRAWN	ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
NCT06843811	PHASE2	ENROLLING_BY_INVITATION	Sirolimus for Leigh Syndrome
NCT06990984	PHASE2	NOT_YET_RECRUITING	A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01780168	Not specified	RECRUITING	The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01803906	Not specified	ENROLLING_BY_INVITATION	Tissue Sample Study for Mitochondrial Disorders
NCT03137355	Not specified	RECRUITING	The International Registry for Leigh Syndrome
NCT05277363	Not specified	WITHDRAWN	A Study of the Natural Course of SURF1 Deficiency
NCT05554835	Not specified	RECRUITING	Global Registry and Natural History Study for Mitochondrial Disorders
NCT06967831	Not specified	RECRUITING	Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells