EFHC2

Summary

EFHC2 (EF-hand domain containing 2, HGNC:26233) is a protein-coding gene on chromosome Xp11.3, encoding EF-hand domain-containing family member C2 (Q5JST6). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome.

Source: NCBI Gene 80258 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 149 total
• MANE Select transcript: NM_025184

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26233
Approved symbol	EFHC2
Name	EF-hand domain containing 2
Location	Xp11.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22843
Ensembl gene	ENSG00000183690
Ensembl biotype	protein_coding
OMIM	300817
Entrez	80258

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000343571, ENST00000420999, ENST00000889038, ENST00000937700, ENST00000962281

RefSeq mRNA: 1 — MANE Select: NM_025184 NM_025184

CCDS: CCDS55405

Canonical transcript exons

ENST00000420999 — 15 exons

Exon	Start	End
ENSE00001638714	44312568	44312756
ENSE00001666519	44235305	44235447
ENSE00001688963	44248803	44248916
ENSE00001693234	44232481	44232677
ENSE00001711496	44147872	44148896
ENSE00001719901	44261075	44261298
ENSE00001728636	44229649	44229779
ENSE00001751206	44272686	44272836
ENSE00001759996	44343547	44343672
ENSE00001764503	44242121	44242289
ENSE00001771226	44250194	44250445
ENSE00001786546	44248272	44248410
ENSE00003505482	44178367	44178564
ENSE00003697756	44176292	44176384
ENSE00003701005	44163922	44164027

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 97.52.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9487 / max 49.0772, expressed in 337 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199004	0.9301	333
199001	0.0186	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	97.52	gold quality
epithelium of bronchus	UBERON:0002031	95.49	gold quality
bronchus	UBERON:0002185	94.44	gold quality
choroid plexus epithelium	UBERON:0003911	89.91	gold quality
right uterine tube	UBERON:0001302	88.98	gold quality
caput epididymis	UBERON:0004358	88.34	gold quality
secondary oocyte	CL:0000655	88.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.53	gold quality
mucosa of paranasal sinus	UBERON:0005030	86.41	gold quality
cranial nerve II	UBERON:0000941	85.92	gold quality
sperm	CL:0000019	85.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.97	gold quality
male germ cell	CL:0000015	83.95	gold quality
oocyte	CL:0000023	83.03	gold quality
epithelium of nasopharynx	UBERON:0001951	80.32	gold quality
corpus epididymis	UBERON:0004359	78.73	gold quality
cauda epididymis	UBERON:0004360	77.27	gold quality
monocyte	CL:0000576	77.07	gold quality
mononuclear cell	CL:0000842	76.82	gold quality
heart right ventricle	UBERON:0002080	76.56	gold quality
leukocyte	CL:0000738	76.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.07	gold quality
nasal cavity epithelium	UBERON:0005384	75.44	gold quality
buccal mucosa cell	CL:0002336	74.07	silver quality
endometrium	UBERON:0001295	73.76	gold quality
fallopian tube	UBERON:0003889	72.81	gold quality
heart left ventricle	UBERON:0002084	72.61	gold quality
cardiac ventricle	UBERON:0002082	72.49	gold quality
upper leg skin	UBERON:0004262	71.91	gold quality
nasal cavity mucosa	UBERON:0001826	71.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.93

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

95 targeting EFHC2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 7)

• An association with the gonosomal gene EFHC2 would be in accordance with the observed preponderance of maternal inheritance in juvenile myoclonic epilepsy maternal inheritance of juvenile myoclonic epilepsy. (PMID:16112844)
• EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism. (PMID:17164267)
• no evidence of an association between rs7055196 genotype and fear recognition (PMID:17948898)
• This study found that the association between a variant in EFHC2 with the processing of fear and social threat and harm reduction. (PMID:19429002)
• EFHC2 variation at SNP rs7055196 is associated with social cognitive abilities in males (PMID:26107779)
• In our series of 96 IGE patients and 96 healthy controls, there was no relation between S430Y polymorphism in EFHC2 gene and IGE presence. (PMID:26958022)
• Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of Norrie disease.Based on the case of our observation, contiguous deletion with only one of the MAO genes (MAOB) may not cause psychomotor disability, and deletion of EFHC2may not contribute to epilepsy. (PMID:29321361)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	efhc2	ENSDARG00000004204
mus_musculus	Efhc2	ENSMUSG00000025038
rattus_norvegicus	Efhc2	ENSRNOG00000002986
drosophila_melanogaster	Efhc1.1	FBGN0030691
drosophila_melanogaster	Efhc1.2	FBGN0034487

Paralogs (2): EFHC1 (ENSG00000096093), EFHB (ENSG00000163576)

Protein

Protein identifiers

EF-hand domain-containing family member C2 — Q5JST6 (reviewed: Q5JST6)

All UniProt accessions (1): Q5JST6

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.

Tissue specificity. Expressed in airway epithelial cells.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5JST6-1	1	yes
Q5JST6-2	2

RefSeq proteins (1): NP_079460* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR006602	DM10_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR040193	EFHC1/EFHC2/EFHB	Family

Pfam: PF06565

UniProt features (23 total): strand 6, sequence variant 5, domain 4, sequence conflict 3, helix 2, chain 1, turn 1, splice variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2Z14	X-RAY DIFFRACTION	1.68
2Z13	X-RAY DIFFRACTION	1.84
7UNG	ELECTRON MICROSCOPY	3.6
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JST6-F1	79.83	0.17

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 151 (showing top): GOBP_DENDRITE_DEVELOPMENT, GOBP_RESPONSE_TO_PEPTIDE, GOBP_REGULATION_OF_DENDRITE_MORPHOGENESIS, GOBP_NEUROGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_DENDRITE_MORPHOGENESIS, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GATA1_04, AACTTT_UNKNOWN, GOBP_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT, GFI1_01, GOBP_CELL_PROJECTION_ORGANIZATION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN

GO Biological Process (3): regulation of neuron projection development (GO:0010975), flagellated sperm motility (GO:0030317), cellular response to leukemia inhibitory factor (GO:1990830)

GO Molecular Function (2): calcium ion binding (GO:0005509), protein binding (GO:0005515)

GO Cellular Component (10): axonemal microtubule (GO:0005879), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule (GO:0005874), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium	2
neuron projection development	1
regulation of plasma membrane bounded cell projection organization	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
metal ion binding	1
binding	1
cytoplasmic microtubule	1
axoneme	1
microtubule organizing center	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1908 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EFHC2	GPR82	Q96P67	888
EFHC2	GPR34	Q9UPC5	846
EFHC2	TEKTIP1	A6NCJ1	606
EFHC2	UBA1	P22314	548
EFHC2	CCDC160	A6NGH7	533
EFHC2	TEKT2	Q9UIF3	490
EFHC2	CLXN	Q9HAE3	487
EFHC2	KRTAP13-4	Q3LI77	480
EFHC2	MRPS6	P82932	472
EFHC2	EFCC1	Q9HA90	472
EFHC2	CFAP161	Q6P656	457
EFHC2	LGI4	Q8N135	435
EFHC2	EFCAB11	Q9BUY7	426
EFHC2	EFCAB6	Q5THR3	420
EFHC2	PRODH2	Q9UF12	404

IntAct

380 interactions, top by confidence:

A	B	Type	Score
PLOD3	EFHC2	psi-mi:“MI:0915”(physical association)	0.890
EFHC2	PLOD3	psi-mi:“MI:0915”(physical association)	0.890
PBLD	EFHC2	psi-mi:“MI:0915”(physical association)	0.780
EFHC2	MAPK9	psi-mi:“MI:0915”(physical association)	0.780
PTK6	EFHC2	psi-mi:“MI:0915”(physical association)	0.780
EDC3	EFHC2	psi-mi:“MI:0915”(physical association)	0.780
EFHC2	PBLD	psi-mi:“MI:0915”(physical association)	0.780
MAPK9	EFHC2	psi-mi:“MI:0915”(physical association)	0.780
EFHC2	EDC3	psi-mi:“MI:0915”(physical association)	0.780
EFHC2	PTK6	psi-mi:“MI:0915”(physical association)	0.780
COPE	EFHC2	psi-mi:“MI:0915”(physical association)	0.720
ARHGEF5	EFHC2	psi-mi:“MI:0915”(physical association)	0.720
EFHC2	LONRF1	psi-mi:“MI:0915”(physical association)	0.720
EFHC2	CCHCR1	psi-mi:“MI:0915”(physical association)	0.720
EFHC2	TSSK3	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (140): EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid), EFHC2 (Two-hybrid)

ESM2 similar proteins: A0A0G2K344, A0A3Q1N1R0, E1BKH1, G3GTP0, G5EF51, O13728, O70481, P06814, P16259, P16885, P20807, P24135, P32871, P34529, P35875, P42336, P42337, P43368, P49917, P51186, P97393, Q09879, Q11208, Q13017, Q32TF8, Q32TG3, Q4V8Q1, Q5JST6, Q5JVL4, Q5R6L3, Q64691, Q6GL75, Q6GQ76, Q6J756, Q6NU25, Q758X6, Q803R5, Q8BTF7, Q8BTI9, Q8CIH5

Diamond homologs: A0A3Q1N1R0, E1BKH1, Q32TF8, Q32TG3, Q5JST6, Q5JVL4, Q9D485, Q9D9T8, Q8N7U6, Q0IQB6, Q0IUU4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 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
Regulation of pyruvate metabolism	6	72.9×	3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	13
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2952 predictions. Top by Δscore:

Variant	Effect	Δscore
X:44148892:CATCT:C	acceptor_gain	1.0000
X:44148895:CT:C	acceptor_gain	1.0000
X:44163921:CCT:C	donor_gain	1.0000
X:44178360:AGCTT:A	donor_loss	1.0000
X:44178361:GCTTA:G	donor_loss	1.0000
X:44178362:CTTA:C	donor_loss	1.0000
X:44178363:TTAC:T	donor_loss	1.0000
X:44178364:TACT:T	donor_loss	1.0000
X:44178365:A:AC	donor_gain	1.0000
X:44178366:C:CC	donor_gain	1.0000
X:44178366:CT:C	donor_gain	1.0000
X:44178366:CTT:C	donor_gain	1.0000
X:44178366:CTTTT:C	donor_gain	1.0000
X:44178560:TGTCT:T	acceptor_gain	1.0000
X:44178561:GTCT:G	acceptor_gain	1.0000
X:44178562:TCT:T	acceptor_gain	1.0000
X:44178562:TCTCT:T	acceptor_loss	1.0000
X:44178563:CT:C	acceptor_gain	1.0000
X:44178563:CTC:C	acceptor_gain	1.0000
X:44178564:TC:T	acceptor_loss	1.0000
X:44178564:TCT:T	acceptor_gain	1.0000
X:44178565:C:CC	acceptor_gain	1.0000
X:44178565:C:CG	acceptor_loss	1.0000
X:44229775:GGATA:G	acceptor_gain	1.0000
X:44229776:GATA:G	acceptor_gain	1.0000
X:44229777:ATA:A	acceptor_gain	1.0000
X:44229778:TA:T	acceptor_gain	1.0000
X:44229779:ACTG:A	acceptor_loss	1.0000
X:44229779:ACTGT:A	acceptor_gain	1.0000
X:44229780:C:CC	acceptor_gain	1.0000

AlphaMissense

4980 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:44232539:A:G	F521S	0.991
X:44232525:C:G	A526P	0.990
X:44235369:A:C	F453L	0.990
X:44235369:A:T	F453L	0.990
X:44235371:A:G	F453L	0.990
X:44235412:G:T	A439E	0.989
X:44235413:C:G	A439P	0.989
X:44229768:A:C	S544R	0.988
X:44229768:A:T	S544R	0.988
X:44229770:T:G	S544R	0.988
X:44272825:A:C	F81L	0.988
X:44272825:A:T	F81L	0.988
X:44272827:A:G	F81L	0.988
X:44235335:A:G	S465P	0.987
X:44178502:C:G	R605P	0.986
X:44272826:A:G	F81S	0.982
X:44235417:A:C	F437L	0.981
X:44235417:A:T	F437L	0.981
X:44235419:A:G	F437L	0.981
X:44261226:A:G	F152S	0.981
X:44232524:G:T	A526D	0.980
X:44235421:C:G	R436P	0.980
X:44261284:G:T	R133S	0.980
X:44272821:C:G	A83P	0.980
X:44235331:A:T	V466E	0.978
X:44235370:A:G	F453S	0.978
X:44312588:A:G	W71R	0.978
X:44312588:A:T	W71R	0.978
X:44261160:G:A	T174I	0.977
X:44272727:T:G	Q114P	0.977

dbSNP variants (sampled 300 via entrez): RS1000014128 (X:44247624 A>G), RS1000039547 (X:44320769 G>A), RS1000084286 (X:44164352 G>T), RS1000092989 (X:44198155 A>G), RS1000148406 (X:44278474 G>A,T), RS1000149566 (X:44247152 C>T), RS1000150321 (X:44167492 T>G), RS1000167079 (X:44176588 C>G), RS1000175367 (X:44345428 G>A), RS1000192139 (X:44205623 A>G), RS1000208467 (X:44290588 T>C), RS1000237921 (X:44290134 T>C), RS1000286963 (X:44274478 C>A,T), RS1000332023 (X:44234845 C>A), RS1000339366 (X:44149209 G>A)

Disease associations

OMIM: gene MIM:300817 | disease phenotypes: MIM:311250

GenCC curated gene-disease

Mondo (2): X-linked intellectual disability (MONDO:0100284), ornithine carbamoyltransferase deficiency (MONDO:0010703)

Orphanet (1): Ornithine transcarbamylase deficiency (Orphanet:664)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST006010_21	Mean arterial pressure	4.000000e-08
GCST012190_2	Body mass index and diastolic blood pressure (bivariate analysis)	5.000000e-06
GCST90011766_22	Glaucoma (primary open-angle)	4.000000e-08
GCST90011770_88	Glaucoma (primary open-angle)	6.000000e-20

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006340	mean arterial pressure
EFO:0004340	body mass index
EFO:0006336	diastolic blood pressure

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020163	Ornithine Carbamoyltransferase Deficiency Disease	C10.228.140.163.100.937.750; C16.320.322.828; C16.320.565.100.940.750; C16.320.565.189.937.750; C18.452.132.100.937.500; C18.452.648.100.940.500; C18.452.648.189.937.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Valproic Acid	affects expression, increases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
mercuric bromide	affects cotreatment, decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arbutin	decreases expression	1
Estradiol	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05345171	PHASE3	ACTIVE_NOT_RECRUITING	Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency
NCT00718627	PHASE2	COMPLETED	Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
NCT01599286	PHASE2	COMPLETED	Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
NCT05526066	PHASE2	TERMINATED	Study for Adolescents and Adults With Ornithine Transcarbamylase Deficiency to Evaluate Safety and Tolerability of ARCT-810
NCT06488313	PHASE2	RECRUITING	A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD
NCT04416126	PHASE1	COMPLETED	Safety, Tolerability and Pharmacokinetics of ARCT-810 in Healthy Adult Subjects
NCT04442347	PHASE1	COMPLETED	Phase 1b Study to Assess Safety, Tolerability, and Pharmacokinetics of ARCT-810 in Stable Adult Subjects With Ornithine Transcarbamylase Deficiency
NCT06247670	PHASE1	ACTIVE_NOT_RECRUITING	Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype
NCT06500260	Not specified	RECRUITING	CNKSR2 Natural History Study
NCT02991144	PHASE1/PHASE2	COMPLETED	Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency
NCT03767270	PHASE1/PHASE2	WITHDRAWN	Safety, Tolerability and PK/PD Evaluation of Intravenous Administration of MRT5201 in Patients With OTC Deficiency
NCT05092685	PHASE1/PHASE2	RECRUITING	Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn
NCT06255782	PHASE1/PHASE2	RECRUITING	An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
NCT00472732	Not specified	COMPLETED	Neurologic Injuries in Adults With Urea Cycle Disorders
NCT01421888	Not specified	TERMINATED	The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
NCT01569568	Not specified	COMPLETED	Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
NCT03636438	Not specified	ACTIVE_NOT_RECRUITING	Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04248062	Not specified	COMPLETED	Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
NCT04269122	Not specified	COMPLETED	A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects
NCT04612764	Not specified	ACTIVE_NOT_RECRUITING	Liver Disease in Urea Cycle Disorders
NCT04717453	Not specified	TERMINATED	Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency
NCT04908319	Not specified	RECRUITING	Hepatic Histopathology in Urea Cycle Disorders
NCT04909346	Not specified	TERMINATED	Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT06805695	Not specified	RECRUITING	Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)