MVK

Summary

MVK (mevalonate kinase, HGNC:7530) is a protein-coding gene on chromosome 12q24.11, encoding Mevalonate kinase (Q03426). Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis. It is a selective cancer dependency (DepMap: 84.2% of cell lines).

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 4598 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mevalonate kinase deficiency (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 26
• Clinical variants (ClinVar): 809 total — 58 pathogenic, 38 likely-pathogenic
• Phenotypes (HPO): 100
• Cancer dependency (DepMap): dependent in 84.2% of screened cell lines
• MANE Select transcript: NM_000431

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7530
Approved symbol	MVK
Name	mevalonate kinase
Location	12q24.11
Locus type	gene with protein product
Status	Approved
Aliases	LRBP, MK
Ensembl gene	ENSG00000110921
Ensembl biotype	protein_coding
OMIM	251170
Entrez	4598

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 13 protein_coding, 5 nonsense_mediated_decay, 4 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000228510, ENST00000392727, ENST00000447878, ENST00000535044, ENST00000537237, ENST00000539335, ENST00000539696, ENST00000540353, ENST00000545516, ENST00000545774, ENST00000546277, ENST00000636529, ENST00000636996, ENST00000697195, ENST00000697196, ENST00000697197, ENST00000697198, ENST00000878305, ENST00000878306, ENST00000878307, ENST00000878308, ENST00000878309, ENST00000920974, ENST00000965100

RefSeq mRNA: 8 — MANE Select: NM_000431 NM_000431, NM_001114185, NM_001301182, NM_001414511, NM_001414512, NM_001414513, NM_001414514, NM_001414515

CCDS: CCDS73522, CCDS9132

Canonical transcript exons

ENST00000228510 — 11 exons

Exon	Start	End
ENSE00002243275	109586022	109586125
ENSE00002290095	109573794	109573873
ENSE00003482861	109574809	109574900
ENSE00003485323	109581395	109581550
ENSE00003636969	109596426	109598125
ENSE00003672992	109579802	109579946
ENSE00003673608	109575998	109576145
ENSE00003969905	109595028	109595181
ENSE00003969906	109586754	109586799
ENSE00003969907	109591241	109591357
ENSE00003969912	109590771	109590861

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 95.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8954 / max 47.7928, expressed in 1735 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127949	7.8954	1735

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	95.59	gold quality
right lobe of liver	UBERON:0001114	94.15	gold quality
metanephros cortex	UBERON:0010533	93.89	gold quality
adrenal tissue	UBERON:0018303	93.19	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.66	gold quality
esophagus mucosa	UBERON:0002469	92.59	gold quality
pancreatic ductal cell	CL:0002079	91.51	silver quality
spinal cord	UBERON:0002240	91.04	gold quality
skin of leg	UBERON:0001511	90.98	gold quality
skin of abdomen	UBERON:0001416	90.69	gold quality
left testis	UBERON:0004533	90.55	gold quality
right testis	UBERON:0004534	90.53	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.33	gold quality
right adrenal gland cortex	UBERON:0035827	90.09	gold quality
right adrenal gland	UBERON:0001233	89.72	gold quality
left adrenal gland cortex	UBERON:0035825	89.46	gold quality
tibialis anterior	UBERON:0001385	89.18	silver quality
left adrenal gland	UBERON:0001234	89.08	gold quality
ileal mucosa	UBERON:0000331	89.04	gold quality
mucosa of transverse colon	UBERON:0004991	88.89	gold quality
adrenal cortex	UBERON:0001235	88.67	gold quality
testis	UBERON:0000473	88.62	gold quality
right lobe of thyroid gland	UBERON:0001119	88.54	gold quality
adrenal gland	UBERON:0002369	88.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.42	gold quality
zone of skin	UBERON:0000014	88.42	gold quality
olfactory bulb	UBERON:0002264	88.37	silver quality
type B pancreatic cell	CL:0000169	88.29	gold quality
liver	UBERON:0002107	88.25	gold quality
tongue squamous epithelium	UBERON:0006919	88.00	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	872.05
E-ANND-3	yes	10.68
E-ENAD-17	no	167.26

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SREBF1, SREBF2

miRNA regulators (miRDB)

26 targeting MVK, 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-6778-3P	99.96	67.29	2693
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-10524-5P	99.05	66.08	963
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-6831-5P	98.26	67.20	990
HSA-MIR-6747-3P	97.73	64.84	1596
HSA-MIR-3927-3P	97.68	66.76	892
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-6800-3P	96.15	65.16	461
HSA-MIR-920	95.97	63.95	811
HSA-MIR-6726-5P	95.97	63.72	841
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 84.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• Mutations of MVK found in hyper-IgD and periodic fever syndrome patients affect the stability and/or maturation of MVK in vitro in a temperature-sensitive manner and may explain the chain of events leading to episodic inflammation and fever. (PMID:12444096)
• Isoprenoid and cholesterol biosynthesis still occurs in cells from mevalonate kinase-deficient patients. (PMID:12477733)
• Carrier frequency of 1:65 overestimates disease frequency, probably due to a reduced penetrance of V377I homozygosity. (PMID:12634869)
• The subcellular localisation of human mevalonate kinase (MK) use a variety of biochemical and microscopical techniques. (PMID:14730012)
• LH receptor mRNA-binding protein (LRBP) is a a novel trans-factor for luteinizing hormone receptor mRNA from ovary. (PMID:14749336)
• Mevalonic aciduria, with psychomotor retardation, cerebellar ataxia, recurrent fever, and death in early childhood, and hyper-immunoglobulin D syndrome, with recurrent fever attacks without neurologic symptoms, are caused by mevalonate kinase deficiency (PMID:15037710)
• Mutations in the coding region of the MVK gene were detected in 6 hyperimmunoglobulinemia D patients, and the most common mutation was V377I. (PMID:15188372)
• Several hydrophobic amino acid side chains are positioned near the polyisoprenoid chain of FSP & their functional significance has been evaluated in mutagenesis experiments with human MK, which exhibits highest reported sensitivity to feedback inhibition. (PMID:18302342)
• an intact active site of MVK is required for its binding to rat LHR mRNA and for its translational suppressor function (PMID:18494797)
• homozygosity for the mutation of the MVK gene has been reported in an Asian patient, and indicated a need for differentiation. (PMID:18941711)
• For the SNPs KCTD10_i5642G–>C and MVK_S52NG–>A, homozygotes for the major alleles (G) had lower HDL-cholesterol concentrations than did carriers of the minor alleles (P = 0.005 and P = 0.019, respectively). (PMID:19605566)
• These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. (PMID:20159775)
• A novel missense mutation in mevalonate kinase (Tyr116His) is associated with mevalonate kinase deficiency and dyserythropoietic anemia. (PMID:20194276)
• Report mevalonate kinase deficiency compromized fiberoblast geranylgeranylation of RhoA and Rac1. (PMID:20814828)
• Results support that deleterious copy number alterations in MVK, NLRP3 and TNFRSF1A are rare or absent from the mutational spectrum of hereditary recurrent fevers. (PMID:21124859)
• data show that LH-regulated ERK1/2 signaling is required for the LRBP-mediated down-regulation of LHR mRNA (PMID:21147848)
• The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency. (PMID:21430599)
• Significant liver disease in a patient with Y116H mutation in the MVK gene. (PMID:21548022)
• hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) patients carried 11 different MVK mutations mostly in compound heterozygosity; the most frequent mutation was p.Val377Ile; in Germany, the incidence of HIDS is very low (PMID:22038276)
• Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome. This is the first case in which exon skipping mutation of the MVK gene has been certainly identified at the genomic DNA level. (PMID:22159817)
• This atypical presentation of MA suggests that it should be included in the differential diagnosis of unclassified patients with psychomotor retardation, failure to thrive or ataxia, even in the absence of febrile episodes. (PMID:22271696)
• MVK has a role in regulating calcium-induced keratinocyte differentiation and could protect keratinocytes from apoptosis induced by type A ultraviolet radiation. (PMID:22983302)
• Results identify a novel frameshift mutation in this gene implicated in disseminated superficial actinic porokeratosis in 4 Chinese families (PMID:23834120)
• study reportstwo novel mutations of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis (PMID:24008101)
• These results suggest that hCG-induced down-regulation of LHR mRNA expression is mediated by activation of cAMP/PKA/ERK pathways to increase miR-122 expression, which then increases LRBP expression through the activation of SREBPs. (PMID:24064360)
• In the current article, we add another phenotype to the spectrum of diverging disorders associated with mutations in MVK. (PMID:24084495)
• Results suggest that the effects of MVK mutations in Behcet’s disease could be an additional genetic susceptibility factor for the patients with neurological involvement. (PMID:24411001)
• Report a novel missense mutation in mevalonate kinase responsible for disseminated superficial actinic porokeratosis. (PMID:24551296)
• The testing for the Hyper IgD Syndrome was positive for the pV377I/c.1129 G>A heterozygosity in a patient with periodic fever. (PMID:24708999)
• mutations are responsible for porokeratosis of Mibelli development in Chinese families (PMID:24781643)
• results from this 4 generation family imply a causal relationship between MVK and perokeratosis. (PMID:25053464)
• study reports a novel mutation of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis (DSAP); result confirms the involvement of MVK gene in DSAP (PMID:25059119)
• Wild-type MK and the variant V261A, which is associated with HIDS, were recombinantly expressed in Escherichia coli. Enzyme activity was determined by formation of MVAP over time (PMID:25982894)
• predictive analysis of mutations in MVK to predict disease severity (PMID:26420133)
• this study extends the mutation spectrum of MVK; MVK protein stability and correct folding might be the molecular mechanism causing disseminated superficial actinic porokeratosis (PMID:26794421)
• In a cohort of mevalonate kinase deficiency patients, ninety-six (84%) of the patients harbored at least 1 p.V377I mutation, 14 (12%) of which were homozygous. The second most frequent mutation was p.I268T, occurring in 29 (25%) of the patients. None of them were p.I268T homozygous. A p.C152Y mutation was found in 1 patient. (PMID:27213830)
• These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. (PMID:27716295)
• Mevalonate kinase deficiency (MKD) can be associated with retinitis pigmentosa (RP) and early onset cataract. Most MKD patients developing RP carry the (p.Ala334Thr) mutation. (PMID:28095071)
• Case Report: homozygous missense p.Cys161Arg in MVK was identified in family members with familial Mediterranean fever. (PMID:29148404)
• this study demonstrates mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae (PMID:29290516)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mvk	ENSDARG00000004130
mus_musculus	Mvk	ENSMUSG00000041939
rattus_norvegicus	Mvk	ENSRNOG00000049604
drosophila_melanogaster	Mvk	FBGN0061359
caenorhabditis_elegans		WBGENE00021534

Paralogs (2): GALK1 (ENSG00000108479), GALK2 (ENSG00000156958)

Protein

Protein identifiers

Mevalonate kinase — Q03426 (reviewed: Q03426)

All UniProt accessions (10): A0A0B4J236, A0A1B0GWC2, A0A8V8TMD0, B2RDU6, Q03426, F5GXC0, F5H092, F5H163, F5H368, F5H8H2

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm. Peroxisome.

Disease relevance. Mevalonic aciduria (MEVA) [MIM:610377] Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. The disease is caused by variants affecting the gene represented in this entry. Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920] Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. The disease is caused by variants affecting the gene represented in this entry. Porokeratosis 3, multiple types (POROK3) [MIM:175900] A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Farnesyl pyrophosphate and geranyl pyrophosphate inhibit mevalonate kinase activity by binding competitively at the ATP-binding sites.

Pathway. Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3.

Similarity. Belongs to the GHMP kinase family. Mevalonate kinase subfamily.

RefSeq proteins (8): NP_000422, NP_001107657, NP_001288111, NP_001401440, NP_001401441, NP_001401442, NP_001401443, NP_001401444 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006203	GHMP_knse_ATP-bd_CS	Conserved_site
IPR006204	GHMP_kinase_N_dom	Domain
IPR006205	Mev_gal_kin	Family
IPR013750	GHMP_kinase_C_dom	Domain
IPR014721	Ribsml_uS5_D2-typ_fold_subgr	Homologous_superfamily
IPR020568	Ribosomal_Su5_D2-typ_SF	Homologous_superfamily
IPR036554	GHMP_kinase_C_sf	Homologous_superfamily

Pfam: PF00288, PF08544

Enzyme classification (BRENDA):

• EC 2.7.1.36 — mevalonate kinase (BRENDA: 38 organisms, 106 substrates, 72 inhibitors, 158 Km, 13 kcat entries)

Substrate kinetics (BRENDA)

36 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.025–7.4	68
(R)-MEVALONATE	0.0324–2.16	25
MEVALONATE	0.012–9.28	20
(R,S)-MEVALONATE	0.035–2.88	5
(RS)MEVALONATE	0.019–0.27	4
DL-MEVALONATE	0.13–5.1	3
(R,S)MEVALONATE	0.024–0.167	2
RS-MEVALONATE	0.0426–0.046	2
(RS)-MEVALONATE	0.27	1
CA-ADENOSINE 5’-O-(2-THIO-(R)-TRIPHOSPHATE)	0.6	1
CA-ADENOSINE 5’-O-(2-THIO-(S)-TRIPHOSPHATE)	0.14	1
CD-ADENOSINE 5’-O-(1-THIO-(R)-TRIPHOSPHATE)	0.22	1
CD-ADENOSINE 5’-O-(1-THIO-(S)-TRIPHOSPHATE)	0.28	1
CD-ADENOSINE 5’-O-(2-THIO-(R)-TRIPHOSPHATE)	0.059	1
CD-ADENOSINE 5’-O-(2-THIO-(S)-TRIPHOSPHATE)	0.46	1

Catalyzed reactions (Rhea), 1 shown:

• (R)-mevalonate + ATP = (R)-5-phosphomevalonate + ADP + H(+) (RHEA:17065)

UniProt features (93 total): sequence variant 37, strand 16, mutagenesis site 13, helix 13, binding site 6, turn 5, active site 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2R3V	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q03426-F1	92.31	0.79

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 (2): 146 (proton donor); 204 (proton acceptor)

Ligand- & substrate-binding residues (6): 13; 55; 135; 140–146; 146; 193

Mutagenesis-validated functional residues (13):

Position	Phenotype
19	no change in protein stability. weak decrease in kinase activity. approximately 2-fold decrease in vmax. approximately 2
56	no effect on kinase activity. approximately 4- and 5-fold decrease affinities for atp and mevalonate, respectively.
104	no effect on kinase activity. approximately 4-fold increase affinity for atp. normal affinity for mevalonate.
145	modest changes in km for atp. 20-fold increase in km for mevalonate. approximately 2-fold decrease in vmax.
146	modest changes in km for atp. 20-fold increase in km for mevalonate. 4000-fold decrease in vmax.
149	no effect on kinase activity. approximately 4- and 8-fold decrease affinities for atp and mevalonate, respectively.
193	no change in protein stability. decreased kinase activity. approximately 50-fold decrease in vmax. approximately 20- and
196	no effect on kinase activity. approximately 2- and 3-fold decrease affinities for atp and mevalonate, respectively.
201	modest changes in km for atp. 100-fold increase in km for mevalonate. approximately 2-fold increase in vmax.
204	no change in protein stability. loss of kinase activity. normal affinities for atp and mevalonate.
243	modest changes in km for atp. 40-fold increase in km for mevalonate. approximately 2-fold decrease in vmax.
296	no change in protein stability. no effect on kinase activity.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)
R-HSA-9969896	Lanosterol biosynthesis
R-HSA-191273	Cholesterol biosynthesis
R-HSA-1430728	Metabolism
R-HSA-1655829	Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-556833	Metabolism of lipids
R-HSA-8957322	Metabolism of steroids

MSigDB gene sets: 428 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ACETYL_COA_METABOLIC_PROCESS, CHANDRAN_METASTASIS_DN, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GCM_MYCL1, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, YOKOE_CANCER_TESTIS_ANTIGENS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GCM_RING1

GO Biological Process (9): cholesterol biosynthetic process (GO:0006695), isoprenoid biosynthetic process (GO:0008299), isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287), negative regulation of inflammatory response (GO:0050728), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202), cholesterol metabolic process (GO:0008203), sterol biosynthetic process (GO:0016126)

GO Molecular Function (10): magnesium ion binding (GO:0000287), mevalonate kinase activity (GO:0004496), ATP binding (GO:0005524), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, alcohol group as acceptor (GO:0016773), metal ion binding (GO:0046872)

GO Cellular Component (3): peroxisome (GO:0005777), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Metabolism of steroids	2
Regulation of cholesterol biosynthesis by SREBP (SREBF)	1
Cholesterol biosynthesis	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid biosynthetic process	2
sterol metabolic process	2
transferase activity, transferring phosphorus-containing groups	2
cellular anatomical structure	2
cholesterol metabolic process	1
sterol biosynthetic process	1
secondary alcohol biosynthetic process	1
isoprenoid metabolic process	1
acetyl-CoA metabolic process	1
isopentenyl diphosphate biosynthetic process	1
inflammatory response	1
negative regulation of defense response	1
negative regulation of response to external stimulus	1
regulation of inflammatory response	1
primary metabolic process	1
steroid metabolic process	1
lipid metabolic process	1
secondary alcohol metabolic process	1
steroid biosynthetic process	1
metal ion binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
cation binding	1
microbody	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

3288 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MVK	HMGCR	P04035	965
MVK	IGHD	P01880	958
MVK	PMVK	Q15126	919
MVK	MVD	P53602	913
MVK	FDPS	P14324	871
MVK	GGPS1	O95749	853
MVK	FDFT1	P37268	843
MVK	HMGCS1	Q01581	841
MVK	GALK1	P51570	826
MVK	IDI1	Q13907	810
MVK	SQLE	Q14534	809
MVK	ACAT1	P24752	794
MVK	IDI2	Q9BXS1	771
MVK	HMGCS2	P54868	732
MVK	ACAT2	Q9BWD1	731

IntAct

61 interactions, top by confidence:

A	B	Type	Score
MVK	MVK	psi-mi:“MI:0915”(physical association)	0.880
rep	POLA1	psi-mi:“MI:0914”(association)	0.670
ANKRD49	CSNK1E	psi-mi:“MI:0914”(association)	0.640
MVK	RNF141	psi-mi:“MI:0915”(physical association)	0.560
EWSR1	MVK	psi-mi:“MI:0915”(physical association)	0.550
GGT5	POTEI	psi-mi:“MI:0914”(association)	0.530
SPACA4	GRN	psi-mi:“MI:0914”(association)	0.530
KLHL10	HSPA8	psi-mi:“MI:0914”(association)	0.530
KLHL10	PXDNL	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
POT1	MVK	psi-mi:“MI:0915”(physical association)	0.510
MVK	LPCAT2	psi-mi:“MI:0915”(physical association)	0.400
TRIM13	MVK	psi-mi:“MI:0915”(physical association)	0.400
MVK	TERF1	psi-mi:“MI:0915”(physical association)	0.370
KHDRBS2	SUPT5H	psi-mi:“MI:0914”(association)	0.350
KLHL10	BCL2L11	psi-mi:“MI:0914”(association)	0.350
SPACA4	HSPA5	psi-mi:“MI:0914”(association)	0.350
MVK	CCDC91	psi-mi:“MI:0914”(association)	0.350
rep	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (75): MVK (Two-hybrid), MVK (Affinity Capture-RNA), MVK (Affinity Capture-RNA), MVK (Affinity Capture-RNA), CCDC91 (Affinity Capture-MS), MVK (Two-hybrid), MVK (Affinity Capture-MS), MVK (Two-hybrid), MVK (Affinity Capture-Western), MVK (Co-fractionation), MVK (Affinity Capture-MS), CCDC91 (Affinity Capture-MS), MVK (Affinity Capture-MS), MVK (Affinity Capture-MS), TACC3 (Affinity Capture-MS)

ESM2 similar proteins: A0A6N3IN21, A3KCL7, A4IFH5, A7MBC0, A7MBI7, D3ZDK7, D3ZDM7, E1BNQ4, P09367, P10950, P11172, P13439, P17256, P20132, P24298, P25409, P31754, P46597, P50053, P97328, Q02974, Q03426, Q0VCW4, Q1JPD3, Q3B8E3, Q3TY86, Q3ZKN0, Q5BJJ5, Q5E9T8, Q5M7T9, Q5R514, Q5R824, Q5RD71, Q5RFE6, Q6PCB7, Q6SKR2, Q80W22, Q8CHP8, Q8CIM3, Q8HZJ0

Diamond homologs: A0A1D8PEL1, B6YST1, C5A7L8, C6A3T5, I1RPE5, O59291, P07277, P17256, P46086, Q03426, Q09780, Q4WP25, Q5E9T8, Q5JJC6, Q86AG7, Q8U0F3, Q9R008, Q9V187, A1R4F8, A5IQ47, A6QEE8, A6TYW9, A7WYP4, A7Z0G9, A8F913, B7HIL3, B7ISV5, C3N8M1, C3NM92, C5A784, O23461, O27995, P65180, P65181, P65182, Q2FJE7, Q2G0S8, Q2YVV0, Q4L3F2, Q50559

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	58
Likely pathogenic	38
Uncertain significance	258
Likely benign	264
Benign	53

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071478	NM_000431.4(MVK):c.605dup (p.Val203fs)	Pathogenic
1075609	NC_000012.11:g.(?110032813)(110034402_?)del	Pathogenic
11928	NM_000431.4(MVK):c.902A>C (p.Asn301Thr)	Pathogenic
11930	NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	Pathogenic
11931	NM_000431.4(MVK):c.59A>C (p.His20Pro)	Pathogenic
11934	NM_000431.4(MVK):c.928G>A (p.Val310Met)	Pathogenic
11935	NM_000431.4(MVK):c.16_34del (p.Leu6fs)	Pathogenic
1454443	NC_000012.11:g.(?110011228)(110017709_?)del	Pathogenic
1460450	NC_000012.11:g.(?110013783)(110013970_?)del	Pathogenic
2024803	NM_000431.4(MVK):c.1090_1091del (p.Gly364fs)	Pathogenic
2090149	NM_000431.4(MVK):c.671T>G (p.Leu224Ter)	Pathogenic
2137420	NM_000431.4(MVK):c.481_482del (p.Cys161fs)	Pathogenic
2142782	NM_000431.4(MVK):c.345dup (p.Tyr116fs)	Pathogenic
217749	NM_000431.4(MVK):c.1039+1G>A	Pathogenic
2196384	NM_000431.4(MVK):c.790dup (p.Leu264fs)	Pathogenic
234379	NM_000431.4(MVK):c.643C>T (p.Arg215Ter)	Pathogenic
2423080	NC_000012.11:g.(?110032813)(110034382_?)del	Pathogenic
2635502	NM_000431.4(MVK):c.560_561del (p.Lys187fs)	Pathogenic
2921862	NM_000431.4(MVK):c.621_630del (p.Ser208fs)	Pathogenic
2925505	NM_000431.4(MVK):c.1A>C (p.Met1Leu)	Pathogenic
2925507	NM_000431.4(MVK):c.395del (p.Val132fs)	Pathogenic
2931188	NM_000431.4(MVK):c.417del (p.Ala141fs)	Pathogenic
2938110	NM_000431.4(MVK):c.207_208del (p.Leu70fs)	Pathogenic
2943228	NM_000431.4(MVK):c.46_49del (p.Leu16fs)	Pathogenic
2944926	NM_000431.4(MVK):c.661_668dup (p.Leu224fs)	Pathogenic
2947497	NM_000431.4(MVK):c.976G>T (p.Gly326Ter)	Pathogenic
2948422	NM_000431.4(MVK):c.664del (p.Ser222fs)	Pathogenic
2949233	NM_000431.4(MVK):c.712A>T (p.Lys238Ter)	Pathogenic
2952122	NM_000431.4(MVK):c.629G>A (p.Trp210Ter)	Pathogenic
2953001	NM_000431.4(MVK):c.386_422del (p.Leu129fs)	Pathogenic

SpliceAI

2655 predictions. Top by Δscore:

Variant	Effect	Δscore
12:109575993:TATA:T	acceptor_loss	1.0000
12:109575995:TA:T	acceptor_loss	1.0000
12:109575996:A:AC	acceptor_loss	1.0000
12:109575997:GGTA:G	acceptor_gain	1.0000
12:109576143:TGGGT:T	donor_loss	1.0000
12:109576144:GG:G	donor_gain	1.0000
12:109576145:GG:G	donor_gain	1.0000
12:109576145:GGT:G	donor_loss	1.0000
12:109576146:G:GA	donor_loss	1.0000
12:109576147:TGAG:T	donor_loss	1.0000
12:109576148:GAGTG:G	donor_loss	1.0000
12:109576149:AGTG:A	donor_loss	1.0000
12:109576408:GTATT:G	donor_gain	1.0000
12:109576409:TATTT:T	donor_gain	1.0000
12:109576410:ATTTA:A	donor_gain	1.0000
12:109579794:T:TA	acceptor_gain	1.0000
12:109591239:A:AG	acceptor_gain	1.0000
12:109591240:G:GG	acceptor_gain	1.0000
12:109591354:GGAA:G	donor_gain	1.0000
12:109591355:G:T	donor_gain	1.0000
12:109591355:GAA:G	donor_gain	1.0000
12:109591355:GAAG:G	donor_gain	1.0000
12:109591358:G:GG	donor_gain	1.0000
12:109595022:CCCTA:C	acceptor_loss	1.0000
12:109595023:CCTA:C	acceptor_loss	1.0000
12:109595024:CTAG:C	acceptor_loss	1.0000
12:109595025:TA:T	acceptor_loss	1.0000
12:109595026:A:AG	acceptor_gain	1.0000
12:109595027:G:A	acceptor_loss	1.0000
12:109595027:G:GG	acceptor_gain	1.0000

AlphaMissense

2529 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:109581459:A:C	S146R	0.994
12:109581461:C:A	S146R	0.994
12:109581461:C:G	S146R	0.994
12:109586105:A:T	D204V	0.994
12:109595127:A:C	S329R	0.993
12:109595129:C:A	S329R	0.993
12:109595129:C:G	S329R	0.993
12:109586106:C:A	D204E	0.991
12:109586106:C:G	D204E	0.991
12:109574860:A:T	K13I	0.990
12:109595132:G:C	K330N	0.990
12:109595132:G:T	K330N	0.990
12:109581479:T:G	C152W	0.989
12:109586104:G:C	D204H	0.989
12:109586105:A:C	D204A	0.989
12:109574875:G:T	G18V	0.988
12:109586116:A:C	S208R	0.988
12:109586118:C:A	S208R	0.988
12:109586118:C:G	S208R	0.988
12:109574851:C:A	A10D	0.986
12:109574875:G:A	G18E	0.986
12:109574856:G:T	G12W	0.985
12:109586059:G:C	A189P	0.985
12:109574878:A:T	E19V	0.984
12:109574861:A:C	K13N	0.983
12:109574861:A:T	K13N	0.983
12:109595130:A:G	K330E	0.983
12:109595167:C:A	T342K	0.983
12:109586109:T:A	N205K	0.982
12:109586109:T:G	N205K	0.982

dbSNP variants (sampled 300 via entrez): RS1000200580 (12:109573973 T>G), RS1000222029 (12:109584103 A>G), RS1000320589 (12:109580316 T>C), RS1000589004 (12:109573780 C>G), RS1000633668 (12:109580878 G>A), RS1000658658 (12:109579023 ACT>A), RS1000910135 (12:109579449 C>T), RS1000935242 (12:109573931 T>A,C), RS1001161330 (12:109590338 C>T), RS1001174803 (12:109585579 C>A), RS1001444364 (12:109590651 C>A,T), RS1001520216 (12:109596902 T>C), RS1001702767 (12:109572413 T>G), RS1001744610 (12:109585281 G>A), RS1001773022 (12:109580835 G>A)

Disease associations

OMIM: gene MIM:251170 | disease phenotypes: MIM:175900, MIM:260920, MIM:610377, MIM:251110, MIM:609273, MIM:605355

GenCC curated gene-disease

Disease	Classification	Inheritance
porokeratosis 3, disseminated superficial actinic type	Definitive	Autosomal dominant
mevalonic aciduria	Definitive	Autosomal recessive
hyperimmunoglobulinemia D with periodic fever	Definitive	Autosomal recessive
porokeratosis of Mibelli	Supportive	Autosomal dominant
disseminated superficial actinic porokeratosis	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mevalonate kinase deficiency	Definitive	AR

Mondo (11): porokeratosis 3, disseminated superficial actinic type (MONDO:0008293), hyperimmunoglobulinemia D with periodic fever (MONDO:0009849), mevalonic aciduria (MONDO:0012481), autoinflammatory syndrome (MONDO:0019751), methylmalonic aciduria, cblB type (MONDO:0009614), inherited retinal dystrophy (MONDO:0019118), mevalonate kinase deficiency (MONDO:0017708), nemaline myopathy 6 (MONDO:0012237), nemaline myopathy 5 (MONDO:0011539), porokeratosis of Mibelli (MONDO:0019141), disseminated superficial actinic porokeratosis (MONDO:0019212)

Orphanet (9): Mevalonic aciduria (Orphanet:29), Hyperimmunoglobulinemia D with periodic fever (Orphanet:343), Autoinflammatory syndrome (Orphanet:93665), Vitamin B12-responsive methylmalonic acidemia (Orphanet:28), Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Mevalonate kinase deficiency (Orphanet:309025), Childhood-onset nemaline myopathy (Orphanet:171439), Amish nemaline myopathy (Orphanet:98902)

HPO phenotypes

100 total (30 of 100 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000155	Oral ulcer
HP:0000239	Large fontanelles
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000325	Triangular face
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000430	Underdeveloped nasal alae
HP:0000494	Downslanted palpebral fissures
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000543	Optic disc pallor
HP:0000592	Blue sclerae
HP:0000639	Nystagmus
HP:0000662	Nyctalopia
HP:0000962	Hyperkeratosis
HP:0000969	Edema
HP:0000979	Purpura
HP:0000988	Skin rash
HP:0000989	Pruritus
HP:0000992	Cutaneous photosensitivity
HP:0001025	Urticaria
HP:0001036	Parakeratosis
HP:0001063	Acrocyanosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000135_3	HDL cholesterol	3.000000e-08
GCST000290_10	HDL cholesterol	1.000000e-10
GCST000755_40	HDL cholesterol	7.000000e-15
GCST000805_11	HDL cholesterol	3.000000e-06
GCST002223_18	HDL cholesterol	2.000000e-13
GCST002899_13	HDL cholesterol	9.000000e-10
GCST004232_15	HDL cholesterol levels	8.000000e-24
GCST005974_9	Neutrophil count	6.000000e-09
GCST005999_21	Aspartate aminotransferase levels	3.000000e-08
GCST006005_19	High density lipoprotein cholesterol levels	5.000000e-18
GCST006611_51	HDL cholesterol	8.000000e-24
GCST006804_187	Red cell distribution width	3.000000e-08
GCST010134_6	Non-oily fish consumption	6.000000e-11
GCST010135_11	Oily fish consumption	6.000000e-11
GCST010135_3	Oily fish consumption	7.000000e-17
GCST010140_3	Pork consumption	6.000000e-11
GCST010140_47	Pork consumption	7.000000e-17
GCST010142_62	Fish- and plant-related diet	4.000000e-13
GCST010142_83	Fish- and plant-related diet	4.000000e-08
GCST010142_87	Fish- and plant-related diet	2.000000e-19
GCST010142_94	Fish- and plant-related diet	5.000000e-13
GCST010204_40	Low density lipoprotein cholesterol levels	3.000000e-08
GCST012020_189	Serum metabolite levels	2.000000e-11
GCST012021_114	Serum metabolite levels	2.000000e-11
GCST90002395_140	Mean platelet volume	1.000000e-10
GCST90014268_27	Cataracts	1.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004833	neutrophil count
EFO:0004736	aspartate aminotransferase measurement
EFO:0009188	Red cell distribution width
EFO:0008111	diet measurement
EFO:0004611	low density lipoprotein cholesterol measurement

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D054078	Mevalonate Kinase Deficiency	C10.228.140.163.100.593; C15.378.147.542.319; C16.320.382.750; C16.320.565.189.593; C16.320.565.663.430; C18.452.132.100.593; C18.452.648.189.593; C18.452.648.663.430; C20.683.460.319
D058499	Retinal Dystrophies	C11.768.585.658
C538397	Nemaline myopathy 5 (supp.)
C538398	Nemaline myopathy 6 (supp.)
C536339	Porokeratosis, disseminated superficial actinic 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10161126	Efficacy	3	alendronate	Bone Diseases

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10161126	MVK	3	3.25	1	alendronate

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — Lanosterol biosynthesis pathway

Most potent curated ligand interactions (9 total), top 9:

Ligand	Action	Affinity	Parameter
farnesyl thiodiphosphate	Inhibition	7.54	pKi
trans,trans-farnesyl diphosphate	Feedback inhibition	7.47	pKi
geranylgeranyl diphosphate	Feedback inhibition	7.23	pKi
geranyl diphosphate	Feedback inhibition	6.94	pKi
isopentenyl diphosphate	Feedback inhibition	4.8	pKi
dimethylallyl diphosphate	Competitive	4.7	pKi
farnesol	Competitive	4.14	pKi
dolichol phosphate	Competitive	4.08	pKi
(RS)-5-diphosphomevalonate	Feedback inhibition	3.74	pIC50

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
fatostatin	increases response to substance, affects binding, decreases reaction, increases reaction, increases expression (+1 more)	5
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	4
Benzo(a)pyrene	decreases expression, decreases methylation	4
Aflatoxin B1	affects expression, decreases expression, decreases methylation	4
geranylgeranyl pyrophosphate	decreases reaction, increases hydrolysis, increases phosphorylation, decreases activity, decreases chemical synthesis	2
farnesyl pyrophosphate	increases hydrolysis, increases phosphorylation, decreases activity, decreases chemical synthesis, decreases reaction	2
geranylgeraniol	increases reaction, increases activity, decreases reaction, increases response to substance, increases expression (+1 more)	2
perfluorooctane sulfonic acid	decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Farnesol	increases hydrolysis, increases phosphorylation, decreases activity, decreases reaction, increases response to substance (+1 more)	2
Tretinoin	increases expression, affects cotreatment, decreases expression	2
22-hydroxycholesterol	decreases expression	1
isopentenyl pyrophosphate	decreases reaction, increases hydrolysis, increases phosphorylation, decreases activity	1
methyleugenol	decreases expression	1
deoxynivalenol	decreases expression	1
geraniol	decreases reaction, increases response to substance, increases expression	1
sodium arsenate	increases expression	1
trichostatin A	decreases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	affects expression	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
dolichol monophosphate	decreases reaction, increases hydrolysis, increases phosphorylation, decreases activity	1
3,3-dimethylallyl pyrophosphate	decreases activity, decreases reaction, increases hydrolysis, increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
4-hydroxy-equilenin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT00442182	PHASE2	UNKNOWN	The Efficacy and Safety of ITF2357 in AIS
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT01303380	PHASE2	COMPLETED	Canakinumab in Patients With Active Hyper-IgD Syndrome
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT00260299	Not specified	TERMINATED	Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
NCT05292768	Not specified	NOT_YET_RECRUITING	Are Mast Cells Involved in Autoinflammatory Diseases
NCT01568736	Not specified	WITHDRAWN	B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency
NCT06838143	Not specified	RECRUITING	Ilaris NIS in Korea
NCT00887939	Not specified	COMPLETED	Pathogenesis of Physical Induced Urticarial Syndromes
NCT03510442	Not specified	RECRUITING	Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still’s Disease, and Related Conditions
NCT06248957	Not specified	RECRUITING	SYSTEMS-LEVEL ANALYSES OF IMMUNE DYSREGULATION
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05820100	Not specified	COMPLETED	Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT