POR

Summary

POR (cytochrome p450 oxidoreductase, HGNC:9208) is a protein-coding gene on chromosome 7q11.23, encoding NADPH–cytochrome P450 reductase (P16435). This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes.

This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase.

Source: NCBI Gene 5447 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 890 total — 63 pathogenic, 33 likely-pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_001395413

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9208
Approved symbol	POR
Name	cytochrome p450 oxidoreductase
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	CYPOR, FLJ26468
Ensembl gene	ENSG00000127948
Ensembl biotype	protein_coding
OMIM	124015
Entrez	5447

Gene structure

Transcript identifiers

Ensembl transcripts: 54 — 45 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay

ENST00000394893, ENST00000412064, ENST00000412521, ENST00000414186, ENST00000418341, ENST00000421059, ENST00000426184, ENST00000432753, ENST00000439269, ENST00000439297, ENST00000439963, ENST00000447222, ENST00000448410, ENST00000449920, ENST00000453773, ENST00000454934, ENST00000460892, ENST00000461988, ENST00000471238, ENST00000475509, ENST00000487247, ENST00000493973, ENST00000495770, ENST00000496888, ENST00000706544, ENST00000706545, ENST00000706546, ENST00000706547, ENST00000910546, ENST00000910547, ENST00000910548, ENST00000910549, ENST00000910550, ENST00000910551, ENST00000910552, ENST00000910553, ENST00000910554, ENST00000910555, ENST00000910556, ENST00000910557, ENST00000910558, ENST00000910559, ENST00000910560, ENST00000910561, ENST00000910562, ENST00000910563, ENST00000910564, ENST00000933049, ENST00000933050, ENST00000944612, ENST00000944613, ENST00000944614, ENST00000944615, ENST00000944616

RefSeq mRNA: 7 — MANE Select: NM_001395413 NM_001367562, NM_001382655, NM_001382657, NM_001382658, NM_001382659, NM_001382662, NM_001395413

CCDS: CCDS5579

Canonical transcript exons

ENST00000461988 — 16 exons

Exon	Start	End
ENSE00003490746	75984777	75984958
ENSE00003520396	75953989	75954180
ENSE00003526398	75972413	75972461
ENSE00003543851	75979451	75979579
ENSE00003549389	75982224	75982322
ENSE00003572657	75981048	75981172
ENSE00003585469	75983520	75983636
ENSE00003588129	75986159	75986241
ENSE00003608871	75985058	75985207
ENSE00003633024	75985923	75986068
ENSE00003653277	75981517	75981606
ENSE00003653353	75985579	75985849
ENSE00003669121	75983738	75983856
ENSE00003786242	75980339	75980488
ENSE00003996125	75915155	75915179
ENSE00003996127	75986337	75986855

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 99.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2134 / max 827.9743, expressed in 1807 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79133	13.9409	1759
79132	6.2552	1742
79137	0.0173	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.30	gold quality
right lobe of liver	UBERON:0001114	99.27	gold quality
right adrenal gland	UBERON:0001233	99.16	gold quality
right adrenal gland cortex	UBERON:0035827	99.13	gold quality
left adrenal gland	UBERON:0001234	99.08	gold quality
left adrenal gland cortex	UBERON:0035825	99.08	gold quality
adrenal cortex	UBERON:0001235	98.92	gold quality
adrenal gland	UBERON:0002369	98.87	gold quality
right lobe of thyroid gland	UBERON:0001119	98.67	gold quality
left lobe of thyroid gland	UBERON:0001120	98.47	gold quality
adenohypophysis	UBERON:0002196	98.46	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.94	gold quality
thyroid gland	UBERON:0002046	97.92	gold quality
metanephros cortex	UBERON:0010533	97.75	gold quality
pituitary gland	UBERON:0000007	97.62	gold quality
lower esophagus mucosa	UBERON:0035834	97.58	gold quality
right uterine tube	UBERON:0001302	97.53	gold quality
liver	UBERON:0002107	97.50	gold quality
mucosa of transverse colon	UBERON:0004991	97.28	gold quality
right ovary	UBERON:0002118	97.22	gold quality
upper lobe of left lung	UBERON:0008952	97.07	gold quality
left ovary	UBERON:0002119	96.72	gold quality
right lung	UBERON:0002167	96.61	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.56	gold quality
upper lobe of lung	UBERON:0008948	96.44	gold quality
left uterine tube	UBERON:0001303	96.11	gold quality
ectocervix	UBERON:0012249	96.02	gold quality
islet of Langerhans	UBERON:0000006	95.90	gold quality
endocervix	UBERON:0000458	95.85	gold quality
omental fat pad	UBERON:0010414	95.85	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EGR1, ESR1, ETS1, SMAD3, SMAD4, SP1, SSRP1, THRA, THRB

miRNA regulators (miRDB)

15 targeting POR, 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-4282	99.99	75.36	6408
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-5088-3P	98.29	66.63	1310
HSA-MIR-12127	97.93	66.67	793
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-6895-5P	97.05	64.96	522
HSA-MIR-134-3P	96.83	66.22	1001

Literature-anchored findings (GeneRIF, showing 40)

• activation of HIF-1 is modulated by cytochrome P-450 reductase in cell membrane (PMID:11971899)
• role of coenzyme binding in regulating interflavin electron transfer in human cytochrome P450 reductase (PMID:12787027)
• Molecular pathogenesis of this form of congenital adrenal hyperplasia is caused by mutations in the gene encoding P450 oxidoreductase (PMID:15220035)
• POR deficiency is a new disorder of adrenal and gonadal steroidogenesis that affects all microsomal cytochrome P450 enzymes, hence may have important implications for genetic differences in drug metabolism. (PMID:15666840)
• POR deficiency is a new disease, distinct from the craniosynostosis syndromes caused by FGFR mutations. (PMID:16467261)
• analysis of FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase (PMID:16998238)
• Antticancer activity of motexafin gadolinium may involve inhibition of this enzyme. (PMID:17018578)
• data suggest that African Americans harbor an allele at the POR locus that may increase breast cancer risk (PMID:17440066)
• A287P homozygous patients had preferential inhibition of CYP17A1, whereas Steroid 21-Hydroxylase retained near normal activity. (PMID:17505056)
• The energetics of 2’,5’-ADP binding to the FAD-binding domain of cytochrome P450 reductase were characterized. (PMID:17580970)
• Mutations R457H and V492E located in the FAD domain of NADPH P450 oxidoreductase (POR) that disrupt electron transfer caused a complete loss of CYP19A1 activity. (PMID:17595315)
• clinical, structural and functional implications of mutations and polymorphisms in POR (PMID:17635179)
• TG100435 and TG100855 were interconverted metabolically. FMO3 seem to be the major N-oxidizing enzyme, whereas cytochrome P450 reductase seems to be responsible for the retroreduction reaction. (PMID:17881660)
• The POR gene in a representative population of 842 healthy unrelated individuals in four ethnic groups was sequenced and compared. (PMID:18230729)
• The prognosis for patients with POR deficiency appears to depend on the severity of the bony malformations and their timely treatment. (PMID:18259105)
• The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency. (PMID:18397975)
• POR deficiency can masquerade clinically as isolated 17,20-lyase deficiency. (PMID:18559916)
• patients with Antley-Bixler-like skeletal anomalies, but with mutations in the POR gene and disordered steroidogenesis, represent a new disorder called POR deficiency. (PMID:18630181)
• Experiments using excess NADPH over cytochrome P450 reductase provide evidence that both pH and solvent significantly influence the kinetic exposure of the blue di-semiquinone intermediate, yet the observed rate constants are essentially pH independent. (PMID:18681889)
• CPR’s putative membrane topology indicates that the Q153R and R316W missense mutations found in patients with disordered steroidogenesis are located within the membrane-associated regions. (PMID:19161969)
• Results describe a model of the structure of human P450 oxidoreductase created by in silico amino acid replacements in the rat POR crystal structure. (PMID:19744540)
• Data support the formation of P450c17, P450arom, and CPR homodimers and oligomers in lipid bilayers. (PMID:19805543)
• study describes 4 patients with POR deficiency & characterizes activities of their mutations; all were compound heterozygotes for POR mutations, including 5 novel mutations: L577R, N185K, delE217, and frameshift mutations 1363delC 7 697-698insGAAC (PMID:19837910)
• Domain motion in cytochrome P450 reductase: conformational equilibria revealed by NMR and small-angle x-ray scattering. (PMID:19858215)
• study concludes that compromised FMN binding is the specific molecular defect causing POR deficiency in patients with Y181D mutation and that this defect, in large part, can be overcome in vitro by FMN addition (PMID:19884324)
• Results indicate that residues in the C-helix of cytochrome P450 2B6 play a major role in the interaction with NADPH-cytochrome P450 reductase. (PMID:20096935)
• POR variants affect CYP3A4 activities. (PMID:20697309)
• Report co-expression of recombinant human CYP2C9 with human cytochrome P450 reductase in protease deficient S. cerevisiae strain at a higher scale yields an enzyme of higher specific activity. (PMID:20722625)
• mutations in POR found in patients with congenital adrenal hyperplasia may reduce HO-1 activity, potentially influencing heme catabolism in individuals carrying mutant POR alleles. (PMID:20732302)
• Our results provide in vivo evidence for an important role of POR in regulating drug metabolism and detoxification. (PMID:20844025)
• report mutations in POR in patients with disordered steroidogenesis/Antley-Bixler syndrome may reduce CYP3A4 activity; POR mutants Y181D, A457H, Y459H, V492E, R616X had over 99% loss of CYP3A4 activity; mutations A287P, C569Y, V608F lost 60-85% activity (PMID:20849814)
• kinetic studies of catalytic interaction with CYP3A4 in liposomes; data support model in which 1st electron transfer takes place within relatively stable CPR-CYP3A4 complex then complex dissociates/reforms between 1st & 2nd electron transfers (PMID:20879989)
• Cytochrome P450 oxidoreductase genetic variants have different effects on catalysis by CYP2D6 that depend on the substrate being metabolized. (PMID:20940534)
• POR is probably an important contributor to genetic variation in both steroidogenesis and drug metabolism (PMID:21070833)
• we identified 75 genetic variations in the POR gene including 26 novel ones from 235 Japanese subjects. Four novel variations resulted in amino acid substitutions. (PMID:21084761)
• POR variants may also affect skeletal development and drug metabolism. (PMID:21164260)
• investigation of influence of domain interfaces on various internal and external electron transfer rates, redox potentials of cofactors (FMN/FAD), and global geometry of the enzyme (PMID:21265736)
• the human P450 (cytochrome) oxidoreductase gene transcription is regulated by thyroid hormone receptor beta and Smad3/4 (PMID:21393444)
• Results reveal unusual biochemical differences between mosquito CPR and the human form in the binding of small molecules that may aid the development of ‘smart’ insecticides and synergists that selectively target mosquito CPR. (PMID:21655236)
• this study provides novel insights into the regulation of gap junction function by CYPOR and suggests that Cx43 may play an important role(s) in CYPOR-mediated bone defects seen in patients. (PMID:21726529)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pora	ENSDARG00000055092
danio_rerio	porb	ENSDARG00000059035
mus_musculus	Por	ENSMUSG00000005514
rattus_norvegicus	Por	ENSRNOG00000001442
drosophila_melanogaster	Cpr	FBGN0015623
caenorhabditis_elegans		WBGENE00001262

Paralogs (5): NOS2 (ENSG00000007171), NOS1 (ENSG00000089250), MTRR (ENSG00000124275), NOS3 (ENSG00000164867), NDOR1 (ENSG00000188566)

Protein

Protein identifiers

NADPH–cytochrome P450 reductase — P16435 (reviewed: P16435)

All UniProt accessions (19): P16435, A0A8V8NE24, A0A8V8NKH1, A0A8V8NLF0, A0A8V8NRY5, A0A8V8NVX2, A0A8V8NVY2, A0A8V8P1G2, A0A8V8P672, A0A8V8PBF2, A0A9L9PXL8, A0A9L9PXN4, A0A9L9PY49, C9JDE2, C9JQ78, C9JU80, E7EMD0, E7EWU0, H0Y4R2

UniProt curated annotations — full annotation on UniProt →

Function. This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750] A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. The disease is caused by variants affecting the gene represented in this entry. Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571] A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 FAD per monomer. Binds 1 FMN per monomer.

Similarity. Belongs to the NADPH–cytochrome P450 reductase family. In the N-terminal section; belongs to the flavodoxin family. In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.

RefSeq proteins (7): NP_001354491, NP_001369584, NP_001369586, NP_001369587, NP_001369588, NP_001369591, NP_001382342* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001094	Flavdoxin-like	Domain
IPR001433	OxRdtase_FAD/NAD-bd	Domain
IPR001709	Flavoprot_Pyr_Nucl_cyt_Rdtase	Domain
IPR003097	CysJ-like_FAD-binding	Domain
IPR008254	Flavodoxin/NO_synth	Domain
IPR017927	FAD-bd_FR_type	Domain
IPR017938	Riboflavin_synthase-like_b-brl	Homologous_superfamily
IPR023173	NADPH_Cyt_P450_Rdtase_alpha	Homologous_superfamily
IPR023208	P450R	Family
IPR029039	Flavoprotein-like_sf	Homologous_superfamily
IPR039261	FNR_nucleotide-bd	Homologous_superfamily

Pfam: PF00175, PF00258, PF00667

Enzyme classification (BRENDA):

• EC 1.6.2.4 — NADPH-hemoprotein reductase (BRENDA: 126 organisms, 159 substrates, 73 inhibitors, 211 Km, 121 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
NADPH	—	79
FERRICYTOCHROME C	0.0009–0.0924	48
CYTOCHROME C	—	32
OXIDIZED 3-(4,5-DIMETHYLTHIAZOL-2-YL)-2,5-DIPHEN	0.0018–0.011	15
NADH	0.0084–50	11
FERRICYANIDE	0.0072–0.1193	3
4-NITROACETOPHENONE	1.4	2
OXIDIZED 2,6-DICHLOROPHENOLINDOPHENOL	0.055–0.077	2
4-NITROBENZALDEHYDE	0.31	1
5-CYANO-2,3-DITOLYL TETRAZOLIUM CHLORIDE	0.05	1
AZIDONITROPHENYL-GAMMA-AMINOBUTYRYL-NADPH	0.0019	1
BENZALACETONE	2.5	1
ETHANOL	7.2	1
HEXADECANAL	0.03	1
MENADIONE	0.0053	1

Catalyzed reactions (Rhea), 1 shown:

• 2 oxidized [cytochrome P450] + NADPH = 2 reduced [cytochrome P450] + NADP(+) + H(+) (RHEA:24040)

UniProt features (103 total): strand 30, helix 27, binding site 15, sequence variant 12, turn 7, sequence conflict 3, topological domain 2, modified residue 2, domain 2, initiator methionine 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
3QFS	X-RAY DIFFRACTION	1.4
3QFT	X-RAY DIFFRACTION	1.4
3QE2	X-RAY DIFFRACTION	1.75
3QFC	X-RAY DIFFRACTION	1.8
1B1C	X-RAY DIFFRACTION	1.93
5EMN	X-RAY DIFFRACTION	2.2
5FA6	X-RAY DIFFRACTION	2.3
3QFR	X-RAY DIFFRACTION	2.4
3FJO	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P16435-F1	91.29	0.81

Functional residue map

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

Ligand- & substrate-binding residues (15): 208; 298; 424; 454–457; 472–474; 478; 488–491; 535; 596–597; 602–606; 638; 676 …

Post-translational modifications (2): 2, 63

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-211897	Cytochrome P450 - arranged by substrate type
R-HSA-1430728	Metabolism
R-HSA-211859	Biological oxidations
R-HSA-211945	Phase I - Functionalization of compounds

MSigDB gene sets: 0 (showing top):

GO Biological Process (23): nitric oxide biosynthetic process (GO:0006809), response to nutrient (GO:0007584), response to xenobiotic stimulus (GO:0009410), carnitine metabolic process (GO:0009437), response to hormone (GO:0009725), flavonoid metabolic process (GO:0009812), fatty acid oxidation (GO:0019395), electron transport chain (GO:0022900), positive regulation of chondrocyte differentiation (GO:0032332), negative regulation of apoptotic process (GO:0043066), nitrate catabolic process (GO:0043602), positive regulation of smoothened signaling pathway (GO:0045880), nitric oxide catabolic process (GO:0046210), positive regulation of growth plate cartilage chondrocyte proliferation (GO:0061913), demethylation (GO:0070988), cellular response to follicle-stimulating hormone stimulus (GO:0071372), cellular response to peptide hormone stimulus (GO:0071375), response to dexamethasone (GO:0071548), positive regulation of steroid hormone biosynthetic process (GO:0090031), organofluorine metabolic process (GO:0090346), P450-containing electron transport chain (GO:0140647), xenobiotic metabolic process (GO:0006805), cellular response to gonadotropin stimulus (GO:0071371)

GO Molecular Function (13): NADPH-hemoprotein reductase activity (GO:0003958), cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128), enzyme activator activity (GO:0008047), nitric oxide dioxygenase [NAD(P)H] activity (GO:0008941), electron transfer activity (GO:0009055), FMN binding (GO:0010181), hydrolase activity (GO:0016787), enzyme binding (GO:0019899), iron-cytochrome-c reductase activity (GO:0047726), flavin adenine dinucleotide binding (GO:0050660), NADP binding (GO:0050661), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), membrane (GO:0016020), intracellular membrane-bounded organelle (GO:0043231), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Phase I - Functionalization of compounds	1
Metabolism	1
Biological oxidations	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to chemical	3
catalytic activity	3
cellular anatomical structure	3
nitric oxide metabolic process	2
metabolic process	2
catabolic process	2
oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor	2
anion binding	2
cytoplasm	2
intracellular anatomical structure	2
biosynthetic process	1
response to nutrient levels	1
amino-acid betaine metabolic process	1
response to endogenous stimulus	1
fatty acid metabolic process	1
lipid oxidation	1
generation of precursor metabolites and energy	1
chondrocyte differentiation	1
regulation of chondrocyte differentiation	1
positive regulation of cell differentiation	1
positive regulation of cartilage development	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
nitrate metabolic process	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
positive regulation of signal transduction	1
growth plate cartilage chondrocyte proliferation	1
regulation of growth plate cartilage chondrocyte proliferation	1
positive regulation of cell population proliferation	1
response to follicle-stimulating hormone	1
cellular response to gonadotropin stimulus	1
cellular response to hormone stimulus	1
response to peptide hormone	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
response to glucocorticoid	1
response to ketone	1
positive regulation of steroid biosynthetic process	1

Protein interactions and networks

STRING

1801 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POR	CYB5B	O43169	997
POR	CYB5A	P00167	997
POR	CYP51A1	Q16850	950
POR	PPIG	Q13427	943
POR	CYP17A1	P05093	912
POR	FANCC	Q00597	911
POR	CYP2B6	P20813	910
POR	CYP3A4	P05184	900
POR	CYP21A2	P04033	845
POR	CYP2E1	P05181	827
POR	HMOX1	P09601	826
POR	CYP1A2	P05177	789
POR	CYP1A1	P04798	749
POR	CYP2A6	P00190	706
POR	BLVRA	P53004	694

IntAct

120 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PGRMC1	POR	psi-mi:“MI:0915”(physical association)	0.680
POR	PGRMC1	psi-mi:“MI:0915”(physical association)	0.680
POR	PGRMC1	psi-mi:“MI:0914”(association)	0.680
POR	PGRMC1	psi-mi:“MI:0403”(colocalization)	0.680
SNX8	POR	psi-mi:“MI:0914”(association)	0.640
POR	CYP2C2	psi-mi:“MI:0915”(physical association)	0.580
CYP2C2	POR	psi-mi:“MI:0915”(physical association)	0.580
PGRMC1	CYP2C2	psi-mi:“MI:0914”(association)	0.540
rep	SLC27A2	psi-mi:“MI:0914”(association)	0.530
RPN1	APBB1	psi-mi:“MI:0914”(association)	0.530
CD63	LGALS8	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
POR	CYCS	psi-mi:“MI:0407”(direct interaction)	0.440
POR	Hmox1	psi-mi:“MI:0915”(physical association)	0.400
POR	STAT1	psi-mi:“MI:0915”(physical association)	0.370
RABEPK	POR	psi-mi:“MI:0915”(physical association)	0.370
		psi-mi:“MI:0914”(association)	0.350
RARS1	TARSL2	psi-mi:“MI:0914”(association)	0.350
UBXN6	POR	psi-mi:“MI:0914”(association)	0.350
CAV2	SURF4	psi-mi:“MI:0914”(association)	0.350
PEBP1	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
CAV2	CYB5B	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350

BioGRID (342): POR (Affinity Capture-MS), POR (Affinity Capture-MS), POR (Affinity Capture-MS), POR (Affinity Capture-MS), POR (Affinity Capture-MS), POR (Affinity Capture-MS), ATL3 (Co-fractionation), NDUFB9 (Co-fractionation), NDUFV1 (Co-fractionation), POR (Co-fractionation), POR (Co-fractionation), POR (Co-fractionation), POR (Co-fractionation), POR (Co-fractionation), XPO1 (Co-fractionation)

ESM2 similar proteins: A0A0A2J1Z6, A0A0C3HJL3, A0A0E3D8M1, A0A0G4P2K0, A0A0S1RUN4, A0A0S2E7V8, A0A0S2E7W3, A0A0S2E7W7, A0A0S2E7X0, A0A0S2E7Z1, A0A100IM63, A0A101MN42, A0A140JWT9, A0A336U965, A0A3G9HRC2, A0A455R5H4, A2QLV1, A8NVB7, B7STY1, F8P1W3, G5EJN7, G7XMT1, G9MLG2, I6NXV7, I7ZK32, O08336, O08394, O42615, P00388, P04175, P0DUL8, P14779, P16435, P16603, P19618, P36587, P37039, P37040, P37201, Q0CRX1

Diamond homologs: A0A2U1KZS6, A0A2U1LIM9, A0A7T9QPQ1, A0KTH4, A1AEV0, A2QS05, A5F3I4, A6TD49, A7MJ63, A7ZQK7, A8A3P5, A8ANX1, A8G9X6, A9LZ73, A9MF16, B1IU77, C5YJG8, O08336, O08394, O19114, O19132, O32214, O54705, O62699, P00388, P00389, P04175, P14779, P16435, P16603, P19618, P29474, P29475, P29476, P29477, P35228, P36587, P37039, P37040, P37116

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SP1	“up-regulates quantity by expression”	POR	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 140 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
PD-L1(CD274) glycosylation and translocation to plasma membrane	7	37.5×	1e-07
Maturation of spike protein	9	24.6×	4e-08
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	6	20.8×	4e-05
Maturation of DENV proteins	8	17.4×	3e-06
Defective CFTR causes cystic fibrosis	7	15.8×	3e-05
Hh mutants are degraded by ERAD	6	15.0×	2e-04
Regulation of RAS by GAPs	7	14.0×	4e-05
Hedgehog ligand biogenesis	6	13.1×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
retrograde protein transport, ER to cytosol	5	41.6×	3e-05
obsolete protein N-linked glycosylation via asparagine	7	39.6×	3e-07
protein N-linked glycosylation	8	17.7×	7e-06
amino acid transport	6	15.7×	4e-04
ERAD pathway	8	12.2×	7e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	63
Likely pathogenic	33
Uncertain significance	233
Likely benign	430
Benign	35

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1379019	NM_001395413.1(POR):c.1676_1679dup (p.Leu561fs)	Pathogenic
1405328	NM_001395413.1(POR):c.723-2A>T	Pathogenic
1454456	NM_001395413.1(POR):c.1406_1407del (p.Val469fs)	Pathogenic
1684295	NM_001395413.1(POR):c.1166dup (p.Ala390fs)	Pathogenic
16901	NM_001395413.1(POR):c.1466T>A (p.Val489Glu)	Pathogenic
16904	NM_001395413.1(POR):c.1813G>T (p.Val605Phe)	Pathogenic
16905	NM_001395413.1(POR):c.722+1G>A	Pathogenic
16906	NM_001395413.1(POR):c.532T>G (p.Tyr178Asp)	Pathogenic
16911	NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys)	Pathogenic
16914	NM_001395413.1(POR):c.559_571dup (p.Arg191fs)	Pathogenic
16915	NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	Pathogenic
1920714	NM_001395413.1(POR):c.64_65del (p.Leu22fs)	Pathogenic
2065334	NM_001395413.1(POR):c.1795C>T (p.Gln599Ter)	Pathogenic
2626788	NM_001395413.1(POR):c.1675dup (p.Glu559fs)	Pathogenic
2695460	NM_001395413.1(POR):c.697del (p.Val233fs)	Pathogenic
2707022	NM_001395413.1(POR):c.1631_1634del (p.Ile544fs)	Pathogenic
2713901	NM_001395413.1(POR):c.1807-1G>A	Pathogenic
2733599	NM_001395413.1(POR):c.385_386dup (p.Asp129fs)	Pathogenic
2735032	NM_001395413.1(POR):c.251dup (p.Tyr84Ter)	Pathogenic
2735033	NM_001395413.1(POR):c.658C>T (p.Arg220Ter)	Pathogenic
2735034	NM_001395413.1(POR):c.1178CCTCGGAGC[1] (p.Pro396_Glu398del)	Pathogenic
2735035	NM_001395413.1(POR):c.1613dup (p.Pro539fs)	Pathogenic
2735036	NM_001395413.1(POR):c.1792del (p.Glu598fs)	Pathogenic
2763217	NM_001395413.1(POR):c.458del (p.Tyr153fs)	Pathogenic
2763667	NM_001395413.1(POR):c.1442_1446del (p.Lys481fs)	Pathogenic
2777822	NM_001395413.1(POR):c.1020del (p.Asp341fs)	Pathogenic
2783886	NM_001395413.1(POR):c.259C>T (p.Gln87Ter)	Pathogenic
2789815	NM_001395413.1(POR):c.1103_1109del (p.Arg368fs)	Pathogenic
2800886	NM_001395413.1(POR):c.386del (p.Asp129fs)	Pathogenic
2806796	NM_001395413.1(POR):c.1523_1542dup (p.Lys515fs)	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

4468 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000030243 (7:75935308 G>A,C,T), RS1000059761 (7:75935176 G>A), RS1000095546 (7:75978358 C>G,T), RS1000108841 (7:75941315 G>A,C,T), RS1000146781 (7:75984419 C>T), RS1000203864 (7:75917666 T>C), RS1000230339 (7:75940954 A>G,T), RS1000242071 (7:75958864 A>G), RS1000355212 (7:75947006 G>A), RS1000584743 (7:75957805 C>T), RS1000760602 (7:75951440 C>T), RS1000785610 (7:75951672 G>A,C), RS1000792799 (7:75967666 G>A), RS1000824646 (7:75953563 C>A,T), RS1000892880 (7:75929418 C>G)

Disease associations

OMIM: gene MIM:124015 | disease phenotypes: MIM:613571, MIM:201750, MIM:207410, MIM:601353, MIM:142623

GenCC curated gene-disease

Disease	Classification	Inheritance
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Definitive	Autosomal recessive
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Strong	Autosomal recessive
Antley-Bixler syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Definitive	AR

Mondo (9): congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (MONDO:0013310), Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MONDO:0008726), congenital adrenal hyperplasia (MONDO:0018479), Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (MONDO:0020667), 46 XY differences of sex development (MONDO:0020040), Fine-Lubinsky syndrome (MONDO:0011049), Hirschsprung disease (MONDO:0018309), primary ovarian failure (MONDO:0005387), Antley-Bixler syndrome (MONDO:0008803)

Orphanet (9): Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (Orphanet:95699), Congenital adrenal hyperplasia (Orphanet:418), Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis (Orphanet:596008), Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis (Orphanet:63269), Antley-Bixler syndrome (Orphanet:83), 46,XY difference of sex development (Orphanet:98085), Aymé-Gripp syndrome (Orphanet:1272), Hirschsprung disease (Orphanet:388), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D000312	Adrenal Hyperplasia, Congenital	C12.050.351.875.253.090.500; C12.200.706.316.090.500; C12.800.316.090.500; C16.131.939.316.129.500; C16.320.033; C16.320.565.925.249; C18.452.648.925.249; C19.053.440; C19.391.119.090.500
D058490	Disorder of Sex Development, 46,XY	C12.050.351.875.253.096; C12.200.706.316.096; C12.800.316.096; C16.131.939.316.096; C19.391.119.096
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
C537933	Fine-Lubinsky syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2169731 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 589 (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
CHEMBL15192	LAPACHONE	2	589

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

PharmGKB clinical annotations

9 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1057868	Other	3	midazolam
rs1057868	Efficacy	3	atorvastatin	Familial hypercholesterolemia
rs1057868	Metabolism/PK	3	nicotine
rs1057868	Metabolism/PK	3	sirolimus	Kidney Transplantation
rs1057868	Efficacy	3	sunitinib	Gastrointestinal Stromal Tumors
rs1057868	Metabolism/PK	3	cyclosporine	Kidney Transplantation
rs1057868	Metabolism/PK	3	tacrolimus	Transplantation
rs1057868	Toxicity	4	tacrolimus	Kidney Transplantation
rs41301394	Dosage	3	warfarin

PharmGKB variants

7 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1057868	POR	3	4.50	8	atorvastatin;tacrolimus;midazolam;sunitinib;cyclosporine;nicotine;sirolimus
rs2868177	POR		0.00	0
rs41301394	POR	3	2.75	1	warfarin
rs10239977	POR		0.00	0
rs3815455	POR		0.00	0
rs10954732	POR		0.00	0
rs2286823	POR		0.00	0

ChEMBL bioactivities

2 potent at pChembl≥5 of 13 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.20	IC50	6300	nM	CHEMBL4094677
5.05	IC50	9000	nM	CHEMBL4086536

PubChem BioAssay actives

2 with measured affinity, of 114 total; 2 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
3,8-dimethylbenzo[g][1]benzofuran-4,5-dione	1441532: Substrate activity at CPR in human L02 cells assessed as CPR-mediated one-electron reduction of compound by measuring cell growth inhibition treated for 24 hrs measured after 72 hrs by MTT assay	ic50	6.3000	uM
7,8-dimethylbenzo[g][1]benzofuran-4,5-dione	1441532: Substrate activity at CPR in human L02 cells assessed as CPR-mediated one-electron reduction of compound by measuring cell growth inhibition treated for 24 hrs measured after 72 hrs by MTT assay	ic50	9.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases reaction, decreases expression, decreases methylation, increases expression, affects expression (+1 more)	7
perfluorooctanoic acid	affects cotreatment, increases expression	5
perfluorooctane sulfonic acid	affects expression, affects cotreatment, increases expression	5
NADP	increases reaction, increases oxidation, increases metabolic processing, increases reduction, affects cotreatment (+4 more)	5
Aflatoxin B1	decreases expression, increases methylation, affects cotreatment, increases response to substance, affects expression	5
Benzo(a)pyrene	decreases expression, decreases methylation, affects cotreatment, increases mutagenesis, increases response to substance	4
Hydrogen Peroxide	increases reaction, decreases reaction, increases abundance, increases metabolic processing, affects cotreatment (+1 more)	4
Paraquat	increases abundance, increases metabolic processing, affects cotreatment, increases reaction, increases expression (+3 more)	4
Phenobarbital	affects expression, increases expression	4
Cadmium Chloride	increases activity, increases expression, decreases reaction	4
diphenyleneiodonium	decreases reaction, increases activity, increases abundance, increases metabolic processing, decreases activity	3
sodium arsenite	decreases expression, increases expression	3
perfluoro-n-nonanoic acid	increases expression, affects cotreatment	3
Doxorubicin	decreases response to substance, affects metabolic processing, increases activity, decreases expression	3
Quercetin	affects cotreatment, decreases reaction, increases metabolic processing, decreases activity, increases activity	3
Tretinoin	increases expression	3
aristolochic acid I	increases metabolic processing, increases expression	2
dibutylnitrosamine	increases response to substance, affects cotreatment	2
N-nitroso(di-n-propyl)amine	affects cotreatment, increases response to substance	2
sulforaphane	affects cotreatment, increases expression	2
2-amino-3-methylimidazo(4,5-f)quinoline	affects cotreatment, increases response to substance	2
2-amino-3,4-dimethylimidazo(4,5-f)quinoline	affects cotreatment, increases response to substance	2
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	affects cotreatment, increases response to substance	2
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	affects cotreatment, increases response to substance	2
2,5-diaziridinyl-3-(hydroxymethyl)-6-methyl-1,4-benzoquinone	increases reduction, increases activity	2
perfluorohexanesulfonic acid	increases expression, affects cotreatment	2
perfluorohexanoic acid	increases expression	2
Troglitazone	increases expression	2
Cyclophosphamide	increases reaction, increases response to substance	2
Diethylnitrosamine	affects cotreatment, increases response to substance	2

ChEMBL screening assays

21 unique, capped per target: 14 admet, 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2175347	Binding	Activity of human recombinant cytochrome P450 reductase assessed as rate of superoxide generation measuring SOD-inhibitable reduction of succinoylated cytochrome c per 2 mU enzyme at 100 umol/ml by spectrophotometry in presence of catalase	Synthesis and structure-activity relationships of lapacho analogues. 1. Suppression of human keratinocyte hyperproliferation by 2-substituted naphtho[2,3-b]furan-4,9-diones, activation by enzymatic one- and two-electron reduction, and intracellular generation of superoxide. — J Med Chem
CHEMBL4009115	ADMET	Substrate activity at CPR in human L02 cells assessed as CPR-mediated one-electron reduction of compound by measuring ROS production at 10 uM after 1 to 3 hrs by DCFH-DA staining based flow cytometry	Discovery of quinone-directed antitumor agents selectively bioactivated by NQO1 over CPR with improved safety profile. — Eur J Med Chem

Cellosaurus cell lines

22 cell lines: 10 spontaneously immortalized cell line, 7 cancer cell line, 4 induced pluripotent stem cell, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A4XZ	WMUi018-A	Induced pluripotent stem cell	Female
CVCL_A9XC	BGUi001-A	Induced pluripotent stem cell	Male
CVCL_A9XD	BGUi002-A	Induced pluripotent stem cell	Male
CVCL_A9XE	BGUi003-A	Induced pluripotent stem cell	Male
CVCL_B1E1	Abcam HCT 116 POR KO	Cancer cell line	Male
CVCL_B2BK	Abcam HeLa POR KO	Cancer cell line	Female
CVCL_B5WP	V79MZh1B1	Spontaneously immortalized cell line	Male
CVCL_B6AR	HepaRG POR KO	Cancer cell line	Female
CVCL_C0R0	HepaRG-POR#1	Cancer cell line	Female
CVCL_C0R1	HepaRG-POR#2	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03760835	PHASE4	RECRUITING	Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment
NCT04536662	PHASE4	UNKNOWN	Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency
NCT02343562	PHASE4	UNKNOWN	Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis
NCT07186647	PHASE4	COMPLETED	Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00001521	PHASE3	COMPLETED	Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia
NCT02716818	PHASE3	COMPLETED	Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia
NCT03062280	PHASE3	COMPLETED	A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH
NCT03532022	PHASE3	WITHDRAWN	Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy
NCT04490915	PHASE3	ACTIVE_NOT_RECRUITING	Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia
NCT04806451	PHASE3	ACTIVE_NOT_RECRUITING	Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Participants With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)
NCT05063994	PHASE3	COMPLETED	Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia
NCT05299554	PHASE3	COMPLETED	Long-term Safety Study of Chronocort in the Treatment of Participants With Congenital Adrenal Hyperplasia
NCT07144163	PHASE3	RECRUITING	A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
NCT03660176	PHASE3	UNKNOWN	Effects of Butyrate Enemas on Postoperative Intestinal Mobility Disorders in Hirschsprung’s Disease
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00621985	PHASE2	COMPLETED	Dexamethasone Treatment of Congenital Adrenal Hyperplasia
NCT01735617	PHASE2	COMPLETED	Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH
NCT01771328	PHASE2	UNKNOWN	Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia
NCT01859312	PHASE2	COMPLETED	Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia
NCT02804178	PHASE2	COMPLETED	A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia
NCT03257462	PHASE2	COMPLETED	Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
NCT03548246	PHASE2	WITHDRAWN	Androgen Reduction in Congenital Adrenal Hyperplasia
NCT03669549	PHASE2	TERMINATED	Nevanimibe HCl for the Treatment of Classic CAH
NCT03687242	PHASE2	COMPLETED	Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia
NCT04457336	PHASE2	TERMINATED	A Ph2b to Evaluate Clinical Efficacy and Safety of Tildacerfont in Adult CAH
NCT04544410	PHASE2	TERMINATED	A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH
NCT05128942	PHASE2	TERMINATED	A Phase 2 Study to Evaluate the Safety, Efficacy and PK of Tildacerfont in Children Aged 2-17 Years With CAH
NCT05907291	PHASE2	COMPLETED	Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)
NCT06712823	PHASE2	RECRUITING	An Extension Study to Evaluate Safety and Efficacy in Participants Treated With CRN04894
NCT07187375	PHASE2	RECRUITING	Pharmacokinetics, Safety and Tolerability of Crinecerfont in Participants With Congenital Adrenal Hyperplasia Who Are Less Than 2 Years Old
NCT07536269	PHASE2	NOT_YET_RECRUITING	Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old
NCT00630838	PHASE2	COMPLETED	Probiotic Prophylaxis of Hirschprung’s Disease Associated Enterocolitis (HAEC)
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure