COQ8B

Summary

COQ8B (coenzyme Q8B, HGNC:19041) is a protein-coding gene on chromosome 19q13.2, encoding Atypical kinase COQ8B, mitochondrial (Q96D53). Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration.

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 79934 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 20
• Clinical variants (ClinVar): 335 total — 19 pathogenic, 13 likely-pathogenic
• Phenotypes (HPO): 56
• Druggable target: yes — 9 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_024876

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19041
Approved symbol	COQ8B
Name	coenzyme Q8B
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12229, COQ8
Ensembl gene	ENSG00000123815
Ensembl biotype	protein_coding
OMIM	615567
Entrez	79934

Gene structure

Transcript identifiers

Ensembl transcripts: 73 — 46 protein_coding, 16 retained_intron, 11 nonsense_mediated_decay

ENST00000243583, ENST00000324464, ENST00000593544, ENST00000593724, ENST00000594084, ENST00000594490, ENST00000594720, ENST00000595254, ENST00000596357, ENST00000596455, ENST00000599643, ENST00000600080, ENST00000600707, ENST00000601304, ENST00000601451, ENST00000601967, ENST00000676555, ENST00000676578, ENST00000676651, ENST00000676960, ENST00000676962, ENST00000677018, ENST00000677039, ENST00000677399, ENST00000677496, ENST00000677517, ENST00000677633, ENST00000677800, ENST00000678057, ENST00000678119, ENST00000678166, ENST00000678312, ENST00000678316, ENST00000678371, ENST00000678404, ENST00000678419, ENST00000678433, ENST00000678467, ENST00000678569, ENST00000678961, ENST00000679002, ENST00000679012, ENST00000679070, ENST00000679130, ENST00000679315, ENST00000871645, ENST00000871646, ENST00000871647, ENST00000871648, ENST00000871649, ENST00000871650, ENST00000871651, ENST00000871652, ENST00000871653, ENST00000871654, ENST00000871655, ENST00000871656, ENST00000871657, ENST00000871658, ENST00000871659, ENST00000871660, ENST00000871661, ENST00000871662, ENST00000915176, ENST00000915177, ENST00000915178, ENST00000915179, ENST00000915180, ENST00000915181, ENST00000946421, ENST00000946422, ENST00000946423, ENST00000946424

RefSeq mRNA: 2 — MANE Select: NM_024876 NM_001142555, NM_024876

CCDS: CCDS12562, CCDS46081

Canonical transcript exons

ENST00000324464 — 15 exons

Exon	Start	End
ENSE00001052099	40700310	40700451
ENSE00003469240	40710059	40710136
ENSE00003472166	40705096	40705181
ENSE00003490480	40714278	40714397
ENSE00003529650	40692951	40693037
ENSE00003566848	40705325	40705447
ENSE00003600333	40703541	40703622
ENSE00003633050	40691530	40692373
ENSE00003635907	40714531	40714635
ENSE00003659328	40695989	40696054
ENSE00003665627	40702600	40702693
ENSE00003665857	40700067	40700174
ENSE00003671666	40714067	40714133
ENSE00003691209	40703715	40703855
ENSE00003844491	40716587	40716886

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 95.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.8417 / max 89.2489, expressed in 1750 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181005	3.9819	1403
181003	2.6012	1392
181002	0.1567	61
181004	0.1019	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.18	gold quality
adenohypophysis	UBERON:0002196	93.49	gold quality
pituitary gland	UBERON:0000007	92.75	gold quality
tibial nerve	UBERON:0001323	89.93	gold quality
monocyte	CL:0000576	89.83	gold quality
right adrenal gland	UBERON:0001233	89.61	gold quality
granulocyte	CL:0000094	89.59	gold quality
mononuclear cell	CL:0000842	89.46	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.46	gold quality
right adrenal gland cortex	UBERON:0035827	89.13	gold quality
apex of heart	UBERON:0002098	89.06	gold quality
leukocyte	CL:0000738	89.03	gold quality
body of stomach	UBERON:0001161	88.34	gold quality
ventricular zone	UBERON:0003053	88.33	gold quality
right lobe of thyroid gland	UBERON:0001119	88.29	gold quality
left adrenal gland	UBERON:0001234	88.22	gold quality
right ovary	UBERON:0002118	88.09	gold quality
endocervix	UBERON:0000458	87.94	gold quality
left adrenal gland cortex	UBERON:0035825	87.84	gold quality
left uterine tube	UBERON:0001303	87.76	gold quality
body of uterus	UBERON:0009853	87.67	gold quality
left lobe of thyroid gland	UBERON:0001120	87.34	gold quality
left ovary	UBERON:0002119	87.31	gold quality
adrenal cortex	UBERON:0001235	87.28	gold quality
right lobe of liver	UBERON:0001114	87.17	gold quality
ectocervix	UBERON:0012249	86.97	gold quality
mucosa of stomach	UBERON:0001199	86.83	gold quality
descending thoracic aorta	UBERON:0002345	86.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.79	gold quality
colonic epithelium	UBERON:0000397	86.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting COQ8B, 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-765	99.84	68.24	2442
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-10398-5P	97.12	64.94	1051

Literature-anchored findings (GeneRIF, showing 9)

• Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with steroid-resistant nephrotic syndrome & transformed lymphoblasts. (PMID:24270420)
• Study in Korean cohort revealed that ADCK4 mutations should be considered in older children presenting with steroid resistant focal segmental glomerulosclerosis. The association with medullary nephrocalcinosis may be an additional diagnostic indicator. (PMID:28405841)
• a COQ8B polymorphism, present in 50% of the European population (NM_024876.3:c.521A > G, p.His174Arg), affects stability of the protein and could represent a risk factor for secondary Coenzyme Q deficiencies or for other complex traits. (PMID:29194833)
• a novel ABC1 domain-localized pathogenic mutation responsible for ADCK4-glomerulopathy was identified, further supporting the importance of the C-terminal portion of ADCK4. (PMID:30352687)
• Absence of Long Noncoding RNA H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal. (PMID:32489187)
• Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4. (PMID:33033902)
• The role of novel COQ8B mutations in glomerulopathy and related kidney defects. (PMID:33084234)
• Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome. (PMID:34172776)
• Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa. (PMID:39226897)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	coq8b	ENSDARG00000101130
mus_musculus	Coq8b	ENSMUSG00000003762
rattus_norvegicus	Coq8b	ENSRNOG00000020848
drosophila_melanogaster	Coq8	FBGN0052649
caenorhabditis_elegans		WBGENE00000767

Paralogs (4): ADCK1 (ENSG00000063761), ADCK2 (ENSG00000133597), COQ8A (ENSG00000163050), ADCK5 (ENSG00000173137)

Protein

Protein identifiers

Atypical kinase COQ8B, mitochondrial — Q96D53 (reviewed: Q96D53)

Alternative names: AarF domain-containing protein kinase 4, Coenzyme Q protein 8B

All UniProt accessions (21): A0A7I2V2R1, A0A7I2V3G8, A0A7I2V3W7, A0A7I2V3Y0, A0A7I2V455, A0A7I2V4T3, A0A7I2V4Z6, A0A7I2V544, A0A7I2V559, A0A7I2V5Z5, Q96D53, M0QZZ2, M0R001, M0R011, M0R0F4, M0R0L2, M0R2F4, M0R307, M0R340, M0R362, M0R3F7

UniProt curated annotations — full annotation on UniProt →

Function. Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Its substrate specificity is still unclear: may act as a protein kinase that mediates phosphorylation of COQ3. According to other reports, acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates. However, the small molecule kinase activity was not confirmed by another publication. Required for podocyte migration.

Subunit / interactions. Homodimer; homodimerizes via its transmembrane region. Interacts with COQ6 and COQ7. Interacts with the multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.

Subcellular location. Mitochondrion membrane. Cytoplasm. Cytosol. Cell membrane.

Tissue specificity. Widely expressed, including renal podocytes.

Disease relevance. Nephrotic syndrome 9 (NPHS9) [MIM:615573] A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Autoinhibited by the N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket. Nucleotide-binding relieves inhibition.

Domain organisation. Adopts an atypical protein kinase-like fold: while it adopts a core fold similar to that of well-characterized protein kinase-like domains. The KxGQ motif completely occludes the typical substrate binding pocket. Nucleotide-binding opens the substrate binding pocket and flips the active site from inside the hydrophobic core into a catalytically competent, solvent-exposed posture.

Pathway. Cofactor biosynthesis; ubiquinone biosynthesis.

Similarity. Belongs to the protein kinase superfamily. ADCK protein kinase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96D53-1	1	yes
Q96D53-2	2

RefSeq proteins (2): NP_001136027, NP_079152* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004147	ABC1_dom	Domain
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR034646	ADCK3_dom	Domain
IPR051409	Atypical_kinase_ADCK	Family

Pfam: PF03109

UniProt features (29 total): sequence variant 13, binding site 5, short sequence motif 2, compositionally biased region 2, chain 1, transmembrane region 1, splice variant 1, domain 1, sequence conflict 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96D53-F1	77.00	0.44

Functional residue map

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

Catalytic / active sites (1): 367 (proton acceptor)

Ligand- & substrate-binding residues (5): 237; 324–327; 372; 386; 219

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2142789	Ubiquinol biosynthesis

MSigDB gene sets: 275 (showing top): CREL_01, GOBP_HINDBRAIN_DEVELOPMENT, AP1_01, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS, GOBP_KETONE_METABOLIC_PROCESS, EFC_Q6, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, AP1_Q4_01, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, BACH2_01, WTGAAAT_UNKNOWN, GOCC_MITOCHONDRIAL_ENVELOPE, ARGGGTTAA_UNKNOWN

GO Biological Process (2): ubiquinone biosynthetic process (GO:0006744), cerebellar Purkinje cell layer morphogenesis (GO:0021692)

GO Molecular Function (7): protein kinase activity (GO:0004672), ATP binding (GO:0005524), lipid binding (GO:0008289), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (6): mitochondrion (GO:0005739), cytosol (GO:0005829), plasma membrane (GO:0005886), mitochondrial membrane (GO:0031966), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of cofactors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
ubiquinone metabolic process	1
quinone biosynthetic process	1
anatomical structure morphogenesis	1
cerebellar Purkinje cell layer development	1
cerebellar cortex morphogenesis	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

874 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COQ8B	COQ6	Q9Y2Z9	967
COQ8B	PDSS1	Q5T2R2	935
COQ8B	COQ4	Q9Y3A0	919
COQ8B	COQ2	Q96H96	912
COQ8B	COQ9	O75208	903
COQ8B	COQ5	Q5HYK3	862
COQ8B	COQ7	Q99807	861
COQ8B	PDSS2	Q86YH6	859
COQ8B	COQ3	Q9NZJ6	858
COQ8B	ADCK2	Q7Z695	714
COQ8B	COQ10A	Q96MF6	677
COQ8B	COQ10B	Q9H8M1	657
COQ8B	NPHS2	Q9NP85	620
COQ8B	NPHS1	O60500	580
COQ8B	INF2	Q27J81	571
COQ8B	PLCE1	Q9P212	571

IntAct

96 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
	PMPCB	psi-mi:“MI:0914”(association)	0.640
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
P2RX4	FAM20B	psi-mi:“MI:0914”(association)	0.640
GYPA	TCAF2	psi-mi:“MI:0914”(association)	0.640
NRAS	RGL2	psi-mi:“MI:0914”(association)	0.550
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
GPR17	IPO8	psi-mi:“MI:0914”(association)	0.530
Hoxa1	COQ8B	psi-mi:“MI:0915”(physical association)	0.370
Kif19		psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
BCL2L14		psi-mi:“MI:0914”(association)	0.350
P2RY6	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC15A3		psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
PB2	DNAJB6	psi-mi:“MI:0914”(association)	0.350
COQ8B	TIMM44	psi-mi:“MI:0914”(association)	0.350
COQ8B	COQ9	psi-mi:“MI:0914”(association)	0.350
COQ3	COQ8B	psi-mi:“MI:0914”(association)	0.350
ATAD3A	TMEM223	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	DENND11	psi-mi:“MI:0914”(association)	0.350
PA	DDX39A	psi-mi:“MI:0914”(association)	0.350
M	TM9SF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (141): ADCK4 (Affinity Capture-MS), ADCK4 (Affinity Capture-MS), ADCK4 (Affinity Capture-MS), ADCK4 (Affinity Capture-MS), COQ5 (Affinity Capture-MS), STOML2 (Affinity Capture-MS), PMPCA (Affinity Capture-MS), PMPCB (Affinity Capture-MS), COQ9 (Affinity Capture-MS), PITRM1 (Affinity Capture-MS), COQ6 (Affinity Capture-MS), ADCK3 (Affinity Capture-MS), COQ7 (Affinity Capture-MS), CHCHD2 (Affinity Capture-MS), CLPB (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RPR8, A1A4J8, A6H751, A6H784, A7YY46, D3ZBP4, D3ZX08, F1MH07, O08644, O15197, O43542, O43819, O43824, O75880, O88561, O88941, P0C0K6, P0C0K7, P0C7A1, P41226, P51839, P51840, P52785, Q02846, Q05932, Q13724, Q14CH7, Q3U6U5, Q4R380, Q5JTZ9, Q5SS80, Q5SUC9, Q69ZP3, Q6NZB1, Q6ZSI9, Q80UM7, Q8N490, Q8NFI3, Q8TDZ2, Q8VCL2

Diamond homologs: A3QJU3, B1XWR5, P27697, Q18486, Q29RI0, Q54IH6, Q566J8, Q5BJQ0, Q5RGU1, Q5ZMT7, Q60936, Q6AY19, Q7NZD1, Q8NI60, Q92338, Q94BU1, Q96D53, Q9SBB2, A0A172M468, A3QIE3, C3K8U2, Q93Y08, A1TTA2, A1U669, A1V750, A1W4D7, A2S8L4, A3MNU1, A3N5V1, A3NRJ7, A4XPM5, A5F4G3, A5WA47, A6VDI8, A9BP42, B0KM38, B0RLZ0, B0U2R2, B1J2S6, B2I583

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 124 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
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	5	15.8×	4e-03
phospholipase C-activating G protein-coupled receptor signaling pathway	7	8.6×	4e-03
G protein-coupled receptor signaling pathway	13	4.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	13
Uncertain significance	97
Likely benign	121
Benign	23

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1032201	NM_024876.4(COQ8B):c.893+1G>T	Pathogenic
1453985	NM_024876.4(COQ8B):c.811G>T (p.Glu271Ter)	Pathogenic
2681741	NM_024876.4(COQ8B):c.1297-2A>G	Pathogenic
2681743	NM_024876.4(COQ8B):c.33del (p.Thr12fs)	Pathogenic
3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	Pathogenic
3660280	NM_024876.4(COQ8B):c.214del (p.Arg72fs)	Pathogenic
3664204	NM_024876.4(COQ8B):c.861C>A (p.Tyr287Ter)	Pathogenic
3675482	NM_024876.4(COQ8B):c.57_60del (p.Trp22fs)	Pathogenic
3683924	NM_024876.4(COQ8B):c.103-1G>T	Pathogenic
3710297	NM_024876.4(COQ8B):c.1077dup (p.Glu360Ter)	Pathogenic
3713511	NM_024876.4(COQ8B):c.1125T>G (p.Tyr375Ter)	Pathogenic
3714107	NM_024876.4(COQ8B):c.289+1G>A	Pathogenic
375336	NM_024876.4(COQ8B):c.645del (p.Phe215fs)	Pathogenic
4005848	NM_024876.4(COQ8B):c.241G>T (p.Glu81Ter)	Pathogenic
91846	NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly)	Pathogenic
91848	NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp)	Pathogenic
91849	NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp)	Pathogenic
974475	NM_024876.4(COQ8B):c.1035+2T>C	Pathogenic
988900	NM_024876.4(COQ8B):c.748G>A (p.Asp250Asn)	Pathogenic
2444313	NM_024876.4(COQ8B):c.271C>T (p.Arg91Cys)	Likely pathogenic
2736895	NM_024876.4(COQ8B):c.759C>A (p.Asn253Lys)	Likely pathogenic
2977223	NM_024876.4(COQ8B):c.368-1G>C	Likely pathogenic
3242713	NC_000019.9:g.(?41205952)(41211372_?)dup	Likely pathogenic
3242714	NC_000019.9:g.(?41211231)(41217328_?)del	Likely pathogenic
3257711	NM_024876.4(COQ8B):c.1156G>A (p.Asp386Asn)	Likely pathogenic
3336632	NM_024876.4(COQ8B):c.566G>A (p.Trp189Ter)	Likely pathogenic
3680093	NM_024876.4(COQ8B):c.367+1G>T	Likely pathogenic
4293095	NM_024876.4(COQ8B):c.449G>A (p.Arg150Gln)	Likely pathogenic
4750427	NM_024876.4(COQ8B):c.799+1G>A	Likely pathogenic
4845808	NM_024876.4(COQ8B):c.49_58del (p.Gly17fs)	Likely pathogenic

SpliceAI

2457 predictions. Top by Δscore:

Variant	Effect	Δscore
19:40692945:CCCCA:C	donor_loss	1.0000
19:40692946:CCCAC:C	donor_loss	1.0000
19:40692947:CCACC:C	donor_loss	1.0000
19:40692948:CACC:C	donor_loss	1.0000
19:40692950:C:CT	donor_loss	1.0000
19:40693034:CCAC:C	acceptor_gain	1.0000
19:40693035:CAC:C	acceptor_gain	1.0000
19:40693035:CACC:C	acceptor_gain	1.0000
19:40693036:ACC:A	acceptor_loss	1.0000
19:40693038:C:CC	acceptor_gain	1.0000
19:40693038:CTG:C	acceptor_loss	1.0000
19:40693039:T:A	acceptor_loss	1.0000
19:40695981:AGACT:A	donor_loss	1.0000
19:40695982:GACTC:G	donor_loss	1.0000
19:40695983:ACTCA:A	donor_loss	1.0000
19:40695984:CTCA:C	donor_loss	1.0000
19:40695985:TCAC:T	donor_loss	1.0000
19:40695986:CACC:C	donor_loss	1.0000
19:40695987:A:AC	donor_gain	1.0000
19:40695988:C:A	donor_loss	1.0000
19:40695988:C:CC	donor_gain	1.0000
19:40695988:CCT:C	donor_gain	1.0000
19:40700062:CCAA:C	donor_loss	1.0000
19:40700063:CAAC:C	donor_loss	1.0000
19:40700065:ACCTG:A	donor_loss	1.0000
19:40700066:C:CG	donor_loss	1.0000
19:40700170:CAAAT:C	acceptor_gain	1.0000
19:40700171:AAAT:A	acceptor_gain	1.0000
19:40700172:AAT:A	acceptor_gain	1.0000
19:40700173:AT:A	acceptor_gain	1.0000

AlphaMissense

3518 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:40696040:G:C	D386E	0.996
19:40696040:G:T	D386E	0.996
19:40700110:T:C	D367G	0.994
19:40696041:T:A	D386V	0.993
19:40703721:C:A	K237N	0.991
19:40703721:C:G	K237N	0.991
19:40705350:C:A	K155N	0.991
19:40705350:C:G	K155N	0.991
19:40696041:T:G	D386A	0.990
19:40700094:G:C	N372K	0.990
19:40700094:G:T	N372K	0.990
19:40692201:C:G	R490P	0.989
19:40700091:G:C	F373L	0.988
19:40700091:G:T	F373L	0.988
19:40700093:A:G	F373L	0.988
19:40700169:G:C	C347W	0.988
19:40703762:G:C	H224D	0.988
19:40696037:A:C	F387L	0.987
19:40696037:A:T	F387L	0.987
19:40696039:A:G	F387L	0.987
19:40700140:T:A	E357V	0.987
19:40705332:G:C	S161R	0.987
19:40705332:G:T	S161R	0.987
19:40705334:T:G	S161R	0.987
19:40703723:T:C	K237E	0.986
19:40703728:G:T	A235D	0.986
19:40705357:G:T	A153D	0.986
19:40700110:T:A	D367V	0.985
19:40703770:C:T	G221E	0.985
19:40693000:A:T	V416D	0.984

dbSNP variants (sampled 300 via entrez): RS1000152731 (19:40693867 G>C), RS1000305338 (19:40710165 C>G,T), RS1000458646 (19:40716383 G>A), RS1000571034 (19:40712023 A>G), RS1000761940 (19:40693307 G>A), RS1000927943 (19:40698888 A>G,T), RS1000981334 (19:40700101 C>G), RS1001024978 (19:40711742 C>A), RS1001042380 (19:40698680 G>A), RS1001229682 (19:40716864 G>A), RS1001432351 (19:40695579 G>A,T), RS1001513731 (19:40704456 T>C), RS1001602602 (19:40701834 G>C), RS1001789009 (19:40710536 C>T), RS1001920555 (19:40706099 G>A)

Disease associations

OMIM: gene MIM:615567 | disease phenotypes: MIM:615573, MIM:268000

GenCC curated gene-disease

Disease	Classification	Inheritance
nephrotic syndrome, type 9	Definitive	Autosomal recessive
familial idiopathic steroid-resistant nephrotic syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (8): nephrotic syndrome, type 9 (MONDO:0014257), mitochondrial disease (MONDO:0044970), retinitis pigmentosa (MONDO:0019200), kidney disorder (MONDO:0005240), retinal disorder (MONDO:0005283), nephrotic syndrome (MONDO:0005377), focal segmental glomerulosclerosis (MONDO:0100313), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)

Orphanet (3): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656), Mitochondrial disease (Orphanet:68380), Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

56 total (30 of 56 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000093	Proteinuria
HP:0000096	Glomerular sclerosis
HP:0000097	Focal segmental glomerulosclerosis
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000512	Abnormal electroretinogram
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000842	Hyperinsulinemia
HP:0000969	Edema
HP:0001105	Retinal atrophy
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis
HP:0002027	Abdominal pain
HP:0002315	Headache
HP:0002586	Peritonitis
HP:0003073	Hypoalbuminemia

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST003847_2	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) level)	6.000000e-08
GCST003849_1	Caffeine metabolism (plasma 3,7-dimethylxanthine (theobromine) level)	4.000000e-06
GCST003851_10	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	5.000000e-12
GCST003851_11	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	8.000000e-09
GCST003851_12	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	2.000000e-10
GCST003851_13	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	9.000000e-22
GCST003851_14	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	9.000000e-10
GCST003851_15	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	9.000000e-11
GCST003851_16	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	3.000000e-09
GCST003851_17	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	2.000000e-11
GCST003851_18	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	1.000000e-08
GCST003851_19	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	3.000000e-11
GCST003851_20	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	3.000000e-09
GCST003851_21	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	1.000000e-09
GCST003851_22	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	2.000000e-08
GCST003851_23	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	3.000000e-08
GCST003851_26	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	5.000000e-12
GCST003851_27	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	1.000000e-08
GCST003851_9	Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)	6.000000e-09
GCST009921_7	Carotid intima media thickness (mean)	1.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007872	caffeine metabolite measurement

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D005923	Glomerulosclerosis, Focal Segmental	C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640
D007674	Kidney Diseases	C12.050.351.968.419; C12.200.777.419; C12.950.419
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643
D012164	Retinal Diseases	C11.768
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5753 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

9 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 187,251 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1287853	FEDRATINIB	4	3,554
CHEMBL24828	VANDETANIB	4	42,230
CHEMBL553	ERLOTINIB	4	108,300
CHEMBL601719	CRIZOTINIB	4	14,403
CHEMBL31965	CANERTINIB	3	8,083
CHEMBL230011	TG100-115	2	1,504
CHEMBL475251	R-406	2	762
CHEMBL607707	PELITINIB	2	6,340
CHEMBL296468	BMS-387032	1	2,075

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs28493229	COQ8B, ITPKC		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — ABC1-B subfamily

Binding affinities (BindingDB)

6 measured of 6 human assays (6 total across all organisms); most potent 6 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
4-(4-Fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)-1H-imidazole	KD	9.8 nM
4-[4-(4-fluorophenyl)-2-(4-methanesulfinylphenyl)-1H-imidazol-5-yl]pyridine	KD	12 nM
N-(4-bromo-2-fluorophenyl)-6-methoxy-7-[(1-methylpiperidin-4-yl)methoxy]quinazolin-4-amine	KD	150 nM
ERLOTINIB HYDROCHLORIDE	KD	1200 nM
CI-1033	KD	1700 nM
(E)-N-[4-(3-chloro-4-fluoro-anilino)-3-cyano-7-ethoxy-6-quinolyl]-4-(dimethylamino)but-2-enamide	KD	3500 nM

ChEMBL bioactivities

20 potent at pChembl≥5 of 20 total, top 16 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.57	Kd	27	nM	CHEMBL386051
7.19	Kd	64	nM	R-406
7.04	Kd	92	nM	TAE-684
6.89	Kd	129	nM	CHEMBL249097
6.52	Kd	300	nM	FEDRATINIB
5.96	Kd	1100	nM	CRIZOTINIB
5.85	Kd	1400	nM	TG100-115
5.77	Kd	1700	nM	VANDETANIB
5.60	Kd	2500	nM	ERLOTINIB
5.54	Kd	2900	nM	BMS-387032
5.51	Kd	3100	nM	SB-203580
5.47	Kd	3400	nM	CANERTINIB
5.46	Kd	3500	nM	CHEMBL1241674
5.32	Kd	4800	nM	CHEMBL2425628
5.31	Kd	4900	nM	SB-202190
5.21	Kd	6100	nM	PELITINIB

PubChem BioAssay actives

20 with measured affinity, of 217 total; 16 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
6-(2,6-dichlorophenyl)-8-methyl-2-(3-methylsulfanylanilino)pyrido[2,3-d]pyrimidin-7-one	625135: Binding constant for ADCK4 kinase domain	kd	0.0270	uM
6-[[5-fluoro-2-(3,4,5-trimethoxyanilino)pyrimidin-4-yl]amino]-2,2-dimethyl-4H-pyrido[3,2-b][1,4]oxazin-3-one	625135: Binding constant for ADCK4 kinase domain	kd	0.0640	uM
5-chloro-2-N-[2-methoxy-4-[4-(4-methylpiperazin-1-yl)piperidin-1-yl]phenyl]-4-N-(2-propan-2-ylsulfonylphenyl)pyrimidine-2,4-diamine	625135: Binding constant for ADCK4 kinase domain	kd	0.0920	uM
3-[[4-(5-hydroxy-2-methylanilino)pyrimidin-2-yl]amino]benzamide	389079: Binding affinity to human ADCK4	kd	0.1290	uM
Fedratinib	625135: Binding constant for ADCK4 kinase domain	kd	0.3000	uM
Crizotinib	625135: Binding constant for ADCK4 kinase domain	kd	1.1000	uM
3-[2,4-diamino-7-(3-hydroxyphenyl)pteridin-6-yl]phenol	625135: Binding constant for ADCK4 kinase domain	kd	1.4000	uM
Vandetanib	435778: Binding constant for full-length ADCK4	kd	1.7000	uM
Erlotinib	435778: Binding constant for full-length ADCK4	kd	2.5000	uM
N-[5-[(5-tert-butyl-1,3-oxazol-2-yl)methylsulfanyl]-1,3-thiazol-2-yl]piperidine-4-carboxamide	625135: Binding constant for ADCK4 kinase domain	kd	2.9000	uM
4-[4-(4-fluorophenyl)-2-(4-methylsulfinylphenyl)-1H-imidazol-5-yl]pyridine	435778: Binding constant for full-length ADCK4	kd	3.1000	uM
N-[4-(3-chloro-4-fluoroanilino)-7-(3-morpholin-4-ylpropoxy)quinazolin-6-yl]prop-2-enamide	435778: Binding constant for full-length ADCK4	kd	3.4000	uM
2-(4-amino-1-propan-2-ylpyrazolo[3,4-d]pyrimidin-3-yl)-1H-indol-5-ol	625135: Binding constant for ADCK4 kinase domain	kd	3.5000	uM
(4-hydroxypiperidin-1-yl)-[4-[[4-[4-(3-methylsulfonylpropoxy)indol-1-yl]pyrimidin-2-yl]amino]cyclohexyl]methanone	769530: Binding affinity to ADCK4 (unknown origin)	kd	4.8000	uM
4-[4-(4-fluorophenyl)-5-pyridin-4-yl-1H-imidazol-2-yl]phenol	435778: Binding constant for full-length ADCK4	kd	4.9000	uM
(E)-N-[4-(3-chloro-4-fluoroanilino)-3-cyano-7-ethoxyquinolin-6-yl]-4-(dimethylamino)but-2-enamide	435778: Binding constant for full-length ADCK4	kd	6.1000	uM

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
monomethylarsonous acid	decreases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Gallic Acid	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Lead	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Toluene	decreases expression, increases methylation	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Sodium Selenite	increases expression	1
Cadmium Chloride	decreases expression	1
Particulate Matter	increases abundance, decreases expression	1

ChEMBL screening assays

77 unique, capped per target: 77 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1025759	Binding	Binding affinity to human ADCK3 at 10 uM relative to control	Assessment of chemical coverage of kinome space and its implications for kinase drug discovery. — J Med Chem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1P3	Abcam HeLa COQ8B KO	Cancer cell line	Female
CVCL_D7MS	Ubigene A-549 COQ8B KO	Cancer cell line	Male
CVCL_SB63	HAP1 COQ8B (-) 1	Cancer cell line	Male
CVCL_SB64	HAP1 COQ8B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

299 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
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
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
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
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
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa