CYP27B1

Summary

CYP27B1 (cytochrome P450 family 27 subfamily B member 1, HGNC:2606) is a protein-coding gene on chromosome 12q14.1, encoding 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (O15528). A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis.

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I.

Source: NCBI Gene 1594 — RefSeq curated summary.

At a glance

• Gene–disease (curated): vitamin D-dependent rickets, type 1A (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 579 total — 58 pathogenic, 37 likely-pathogenic
• Phenotypes (HPO): 68
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000785

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2606
Approved symbol	CYP27B1
Name	cytochrome P450 family 27 subfamily B member 1
Location	12q14.1
Locus type	gene with protein product
Status	Approved
Aliases	CYP1, P450c1
Ensembl gene	ENSG00000111012
Ensembl biotype	protein_coding
OMIM	609506
Entrez	1594

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000228606, ENST00000546496, ENST00000546567, ENST00000546609, ENST00000547344, ENST00000547451, ENST00000552186, ENST00000713544, ENST00000713545, ENST00000718428

RefSeq mRNA: 1 — MANE Select: NM_000785 NM_000785

CCDS: CCDS8954

Canonical transcript exons

ENST00000228606 — 9 exons

Exon	Start	End
ENSE00000838996	57766847	57767078
ENSE00002378890	57762334	57763255
ENSE00003479983	57764754	57764926
ENSE00003502018	57764098	57764176
ENSE00003686375	57763611	57763808
ENSE00003694382	57764378	57764550
ENSE00003704765	57766007	57766197
ENSE00003786192	57765011	57765211
ENSE00004020196	57765297	57765499

Expression profiles

Bgee: expression breadth ubiquitous, 175 present calls, max score 92.03.

FANTOM5 (CAGE): breadth broad, TPM avg 5.4209 / max 431.1545, expressed in 261 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131760	5.1533	188
131759	0.0949	51
131758	0.0761	32
131757	0.0525	24
131756	0.0441	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nephron tubule	UBERON:0001231	92.03	gold quality
metanephric glomerulus	UBERON:0004736	89.04	gold quality
kidney epithelium	UBERON:0004819	89.02	gold quality
renal glomerulus	UBERON:0000074	88.33	gold quality
adult mammalian kidney	UBERON:0000082	86.14	gold quality
cortex of kidney	UBERON:0001225	81.46	gold quality
kidney	UBERON:0002113	80.38	gold quality
body of pancreas	UBERON:0001150	77.81	gold quality
metanephros	UBERON:0000081	76.01	gold quality
hair follicle	UBERON:0002073	75.76	silver quality
right lobe of thyroid gland	UBERON:0001119	73.37	gold quality
left lobe of thyroid gland	UBERON:0001120	73.13	gold quality
pancreas	UBERON:0001264	72.84	gold quality
left adrenal gland	UBERON:0001234	72.82	gold quality
left adrenal gland cortex	UBERON:0035825	72.82	gold quality
right adrenal gland	UBERON:0001233	72.00	gold quality
metanephros cortex	UBERON:0010533	71.88	gold quality
tongue squamous epithelium	UBERON:0006919	71.50	gold quality
thyroid gland	UBERON:0002046	71.40	gold quality
right adrenal gland cortex	UBERON:0035827	71.16	gold quality
adrenal cortex	UBERON:0001235	70.23	gold quality
adrenal gland	UBERON:0002369	69.12	gold quality
endometrium epithelium	UBERON:0004811	69.08	gold quality
oocyte	CL:0000023	67.79	gold quality
islet of Langerhans	UBERON:0000006	66.97	gold quality
minor salivary gland	UBERON:0001830	66.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.64	gold quality
Brodmann (1909) area 10	UBERON:0013541	64.61	gold quality
skin of abdomen	UBERON:0001416	64.23	gold quality
skin of leg	UBERON:0001511	63.58	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.18

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, E2F1, E2F4, GFI1, NFKB1, PPARA, RELA, RXRA, THRA, THRB, VDR

miRNA regulators (miRDB)

57 targeting CYP27B1, 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-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-5689	99.50	71.26	1154
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-10B-3P	99.04	66.98	988
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-6837-3P	98.42	66.71	1149
HSA-MIR-4436B-3P	98.25	65.26	1494

Literature-anchored findings (GeneRIF, showing 40)

• CYP1alpha intron 6 polymorphism appears not to be associated with type 1 diabetes mellitus, Graves’ disease and Hashimoto’s thyroiditis. (PMID:12039697)
• Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. (PMID:12050193)
• activity is diminished in human prostate cancer cells and is enhanced by gene transfer (PMID:12137802)
• Expression and activity of 25-hydroxyvitamin D-1 alpha-hydroxylase are restricted in cultures of human syncytiotrophoblast cells from preeclamptic pregnancies. (PMID:12161526)
• Targeted disruption of this protein in ras-transformed keratinocytes demonstrates that this locally produced protein suppresses growth and induces differentiation in an autocrine fashion. (PMID:12496369)
• Polymorphism of this gene may be associated with NIDDM in Poland. (PMID:12746631)
• demonstrated constitutive expression of 25(OH)D3-1 alpha-hydroxylase in monocyte-derived dendritic cells, which was increased after stimulation with LPS. (PMID:12855575)
• mRNA in alveolar macrophages greater in lung cancer than controls. Advanced stage of lung cancer showed highest expression, followed by early group, then controls. (PMID:14671156)
• suggests that there are some minor structural and functional differences between the wild-type VDR and the Delta165-215 deletion mutant and that Y143 residue is more important for receptor function than residue S278 (PMID:15225751)
• Down-regulation of 1alpha-hydroxylase promoter through NFkappaB signaling may contribute to the pathogenesis of inflammation-associated osteopenia/osteoporosis. (PMID:15243130)
• The CYP27B1 promoter (-1260) C/A polymorphism appears to be associated with endocrine autoimmune diseases but the CYP27B1 intron 6 (+2838) C/T polymorphism appears to be associated only with Hashimoto’s thyroiditis. (PMID:15296474)
• Increased expression of 25-hydroxyvitamin D-1alpha-hydroxylase is associated with dysgerminomas (PMID:15331405)
• 1Alpha-hydroxylase is found in both neurons and glial cells of the brain in a regional and layer-specific pattern. (PMID:15589699)
• evidence for the expression of an enzymatically active 25(OH)D3-1alpha-hydroxylase system in human VSMCs, which can be upregulated by parathyroid hormone and estrogenic compounds, an autocrine mechanism to curb changes in VSMC proliferation (PMID:15795327)
• GFI1 in prostate cancer cells acts as a repressor of 25-hydroxyvitamin D 1-alpha hydroxylase gene. (PMID:15947108)
• CYP27B1 splice variants have roles in vitamin D(3) metabolism in human glioblastoma multiforme (PMID:16061850)
• first studies to demonstrate that nontransformed human mammary cells express 25 hydroxyvitamin D3-1-alpha hydroxylase(CYP27B1), and that they are growth inhibited by physiologically relevant concentrations of 25(OH)D3 (PMID:16549446)
• Results describe the expression, localization and regulation of 1,25(OH)(2)D(3), 1alpha-hydroxylase in human cycling and early pregnant endometrium. (PMID:16720713)
• Expression, activity, and functionality of 1alpha-hydroxylase unequivocally demonstrates that vitamin D can act in an auto/paracrine manner in bone. (PMID:17023519)
• The overall data suggest that calcitriol downregulates CYP27B1 expression via a cAMP-dependent signaling pathway, whereas upregulates 24-hydroxylase gene expression through a VDR-dependent mechanism (PMID:17079137)
• expression of the 5’-flanking region for the CYP27B1 gene in osteoblast cells may be regulated differently to that previously described in kidney cells (PMID:17207990)
• growth factor independent 1 may play a significant role in the down regulation of endogenous production of 1,25D in prostate cancer cells and could provide a novel insight to future diagnosis and treatment (PMID:17207994)
• CYP27B1 gene could play a functional role in the pathogenesis of type 1 diabetes through modulation of its mRNA expression and influence serum levels of 1,25(OH)(2)D(3) via the -1260 C/A polymorphism (PMID:17223345)
• modulation of the 25 hydroxyvitamin D(3)-1alpha-hydroxylase opens up a new target for vitamin D(3) related therapies in endometrial cancer (PMID:17236759)
• local 1,25D synthesis has paracrine effects in the bone microenvironment implying that vitamin D metabolism in human osteoblasts represents a physiologically important pathway (PMID:17254772)
• confirm a crucial role for STAT1alpha as well as for C/EBPbeta in the regulation of 1alpha-hydroxylase in monocytes (PMID:17267208)
• abundance of less active 1alpha-hydroxylase protein variants can alter the local synthesis of calcitriol in the cells and may explain variations of enzymatic activity in different cells and tissues (PMID:17287116)
• local synthesis of 1,25(OH)(2)D(3) may be a preferred mode of response to antigenic challenge in many tissues (PMID:17368179)
• Evidence is presented for autocrine and paracrine activities of CYP27B1. (PMID:17395559)
• Data indicate that noncoding splice variants of CYP27b1 are functionally active and may play a significant role in the regulation of 1,25(OH)2D3 synthesis during normal physiology. (PMID:17395703)
• The identification of two new vitamin D response element-binding regions in the distal promoter that bind vitamin D receptor-retinoid X receptor complexes. (PMID:17426122)
• 4 novel & 4 known mutations were identified in patients with 1alpha-hydroxylase deficiency; new mutations included a nonsense mutation in exon 6; deletion of adenine in exon 9 ; substitution of thymine for cytosine in exon 2; & a splice site mutation (PMID:17488797)
• Common inherited variation in the vitamin D metabolism such as mutation in CYP27B1 affect susceptibility to type 1 diabetes. (PMID:17606874)
• Seveeral splice variants are identified in breast cancer cell lines and malignant cells ma contain inactive variants. (PMID:17878529)
• Association between polymorphisms across the entire vitamin D receptor (VDR) gene and genes encoding for vitamin D activating enzyme 1-alpha-hydroxylase (CYP27B1) and deactivating enzyme 24-hyroxylase (CYP24A1) and prostate cancer risk. (PMID:17932346)
• Significant associations of 2 CYP27B1 SNP variants and 25(OH)D concentrations were observed. The findings indicate important genetic influences on regulation of seasonal circulating 25(OH)D concentrations in MS twins. (PMID:18689381)
• Oncogenic transformation of mammary epithelial cellS was associated with reduced 1alpha,25(OH)2D3 synthesis, and reduced mRNA and protein levels of VDR and CYP27b1 (PMID:18767073)
• CYP27B1 does not commonly serve as a classical tumor suppressor gene in the development of sporadic parathyroid adenomas or of refractory secondary/tertiary hyperparathyroidism (PMID:18767934)
• No evidence that CYP27B1 polymorphisms were associated with mammographic breast density among Caucasian premenopausal women of French descent. (PMID:18768522)
• Single nucleotide polymorphisms may be associated with risk of prostate cancer in men with low vitamin D status. (PMID:19255064)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cyp27b1	ENSDARG00000045015
mus_musculus	Cyp27b1	ENSMUSG00000006724
rattus_norvegicus	Cyp27b1	ENSRNOG00000046214
drosophila_melanogaster	sad	FBGN0003312

Paralogs (3): CYP24A1 (ENSG00000019186), CYP27A1 (ENSG00000135929), CYP27C1 (ENSG00000186684)

Protein

Protein identifiers

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial — O15528 (reviewed: O15528)

Alternative names: 25-OHD-1 alpha-hydroxylase, 25-hydroxyvitamin D(3) 1-alpha-hydroxylase, Calcidiol 1-monooxygenase, Cytochrome P450 subfamily XXVIIB polypeptide 1, Cytochrome P450C1 alpha, Cytochrome P450VD1-alpha, Cytochrome p450 27B1

All UniProt accessions (3): A0AAA9YHN9, A0AAA9YHZ6, O15528

UniProt curated annotations — full annotation on UniProt →

Function. A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway. Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin.

Subcellular location. Mitochondrion membrane.

Tissue specificity. Kidney.

Disease relevance. Rickets vitamin D-dependent 1A (VDDR1A) [MIM:264700] A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activated by cardiolipin and dioleoyl phosphatidylethanolamine (DOPE), phospholipids found in the inner mitochondrial membrane. Inhibited by high substrate concentration.

Pathway. Hormone biosynthesis; vitamin D biosynthesis.

Similarity. Belongs to the cytochrome P450 family.

RefSeq proteins (1): NP_000776* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001128	Cyt_P450	Family
IPR002401	Cyt_P450_E_grp-I	Family
IPR017972	Cyt_P450_CS	Conserved_site
IPR036396	Cyt_P450_sf	Homologous_superfamily
IPR050479	CYP11_CYP27_families	Family

Pfam: PF00067

Enzyme classification (BRENDA):

• EC 1.14.15.18 — calcidiol 1-monooxygenase (BRENDA: 12 organisms, 56 substrates, 56 inhibitors, 26 Km, 14 kcat entries)

Substrate kinetics (BRENDA)

9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
25-HYDROXYCHOLECALCIFEROL	0.0001–0.89	8
25-HYDROXYVITAMIN D	0.0001–0.0005	5
(24R),25-DIHYDROXYCHOLECALCIFEROL	0.0011	2
1ALPHA-HYDROXYVITAMIN D	0.0005–0.0007	2
25-HYDROXYVITAMIN D2	4.6–4.8	2
25-HYDROXYVITAMIN D3	5.9–9.7	2
(24R),25-DIHYDROXYVITAMIN D3	26	1
20-HYDROXYVITAMIN D3	49	1
24,25-DIHYDROXYCHOLECALCIFEROL	0.0013	1

Catalyzed reactions (Rhea), 4 shown:

• calcidiol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = calcitriol + 2 oxidized [adrenodoxin] + H2O (RHEA:20573)
• 25-hydroxyvitamin D2 + 2 reduced [adrenodoxin] + O2 + 2 H(+) = 1alpha,25-dihydroxyvitamin D2 + 2 oxidized [adrenodoxin] + H2O (RHEA:49048)
• secalciferol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = calcitetrol + 2 oxidized [adrenodoxin] + H2O (RHEA:49064)
• 25-hydroxy-24-oxocalciol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = (1S)-1,25-dihydroxy-24-oxocalciol + 2 oxidized [adrenodoxin] + H2O (RHEA:49068)

UniProt features (23 total): sequence variant 19, transit peptide 1, chain 1, binding site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15528-F1	86.75	0.70

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 (1): 455 (axial binding residue)

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-196791	Vitamin D (calciferol) metabolism
R-HSA-211916	Vitamins
R-HSA-5579014	Defective CYP27B1 causes VDDR1A

MSigDB gene sets: 427 (showing top): GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_BIOLOGICAL_OXIDATIONS, BENPORATH_ES_WITH_H3K27ME3, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_POSITIVE_REGULATION_OF_KERATINOCYTE_DIFFERENTIATION, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MODULE_522, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_POLYOL_METABOLIC_PROCESS, GOBP_GROWTH, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER

GO Biological Process (25): vitamin metabolic process (GO:0006766), calcium ion transport (GO:0006816), negative regulation of cell population proliferation (GO:0008285), bone mineralization (GO:0030282), negative regulation of cell growth (GO:0030308), regulation of bone mineralization (GO:0030500), response to lipopolysaccharide (GO:0032496), response to vitamin D (GO:0033280), response to type II interferon (GO:0034341), calcitriol biosynthetic process from calciol (GO:0036378), vitamin D metabolic process (GO:0042359), vitamin D catabolic process (GO:0042369), response to estrogen (GO:0043627), positive regulation of keratinocyte differentiation (GO:0045618), decidualization (GO:0046697), calcium ion homeostasis (GO:0055074), G1 to G0 transition (GO:0070314), positive regulation of vitamin D receptor signaling pathway (GO:0070564), cellular response to vitamin D (GO:0071305), alcohol metabolic process (GO:0006066), lipid metabolic process (GO:0006629), lipid biosynthetic process (GO:0008610), vitamin D biosynthetic process (GO:0042368), small molecule metabolic process (GO:0044281), small molecule biosynthetic process (GO:0044283)

GO Molecular Function (8): calcidiol 1-monooxygenase activity (GO:0004498), iron ion binding (GO:0005506), heme binding (GO:0020037), secalciferol 1-monooxygenase activity (GO:0062185), monooxygenase activity (GO:0004497), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), metal ion binding (GO:0046872)

GO Cellular Component (5): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020), mitochondrial membrane (GO:0031966)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of steroids	1
Cytochrome P450 - arranged by substrate type	1
Metabolic disorders of biological oxidation enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
small molecule metabolic process	2
negative regulation of cellular process	2
response to lipid	2
response to oxygen-containing compound	2
oxidoreductase activity	2
cellular anatomical structure	2
metal ion transport	1
cell population proliferation	1
regulation of cell population proliferation	1
ossification	1
biomineral tissue development	1
regulation of cell growth	1
cell growth	1
negative regulation of growth	1
regulation of ossification	1
bone mineralization	1
regulation of biomineral tissue development	1
response to molecule of bacterial origin	1
response to vitamin	1
response to cytokine	1
innate immune response	1
vitamin D biosynthetic process	1
polyol biosynthetic process	1
vitamin D3 metabolic process	1
steroid metabolic process	1
steroid catabolic process	1
vitamin D metabolic process	1
fat-soluble vitamin catabolic process	1
response to hormone	1
keratinocyte differentiation	1
positive regulation of epidermal cell differentiation	1
regulation of keratinocyte differentiation	1
positive regulation of multicellular organismal process	1
maternal placenta development	1
developmental process involved in reproduction	1
tissue development	1
monoatomic cation homeostasis	1
inorganic ion homeostasis	1
cell cycle process	1
vitamin D receptor signaling pathway	1

Protein interactions and networks

STRING

2167 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYP27B1	PTH	P01270	940
CYP27B1	FGF23	Q9GZV9	906
CYP27B1	GC	P02774	856
CYP27B1	SLC34A1	Q06495	815
CYP27B1	PHEX	P78562	802
CYP27B1	PPIF	P30405	787
CYP27B1	PPIG	Q13427	755
CYP27B1	CAMP	P49913	721
CYP27B1	SLC34A3	Q8N130	719
CYP27B1	KL	Q9UEF7	696
CYP27B1	DHCR7	Q9UBM7	678
CYP27B1	TLR2	O60603	671
CYP27B1	METTL1	Q9UBP6	667
CYP27B1	PIAS1	O75925	651
CYP27B1	MBD4	O95243	651

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CYP27B1	PSMG3	psi-mi:“MI:0915”(physical association)	0.400
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (3): CYP27B1 (Affinity Capture-RNA), PSMG3 (Affinity Capture-MS), CYP27B1 (Affinity Capture-RNA)

ESM2 similar proteins: B2RXA7, E1BHJ4, F1RE08, G3V7X8, I1GQE7, O02766, O15528, O35084, O35132, O43174, O55127, O88962, O93323, P00191, P03940, P08686, P0DOX0, P12394, P15540, P30437, P51871, P70085, P98187, Q07973, Q08D50, Q09128, Q16678, Q2LA59, Q2LA60, Q2LCM1, Q3MID2, Q4G0S4, Q5VRM7, Q60991, Q64429, Q64441, Q64562, Q64678, Q6EIG3, Q6V0L0

Diamond homologs: A0A068A9T2, A0A068AA98, A0A068ACU3, A0A084API1, A0A0F7U0K0, A0A0P0ZEA9, A0A166YZR3, A0A1B4XBH0, A0A1L7VEQ6, A0A1L9WQK2, A0A1R3RGJ7, A0A1V1FNM9, A0A2P1DPA5, A0A3S9NM20, A0A411KUQ5, A0A455ZIK8, A0A481WPJ6, A0A831A9C9, A0A8K1AW54, A1C8C2, A1DA63, A2R6G9, B6HFX9, B8NHD9, B8NM64, B8QHP1, B9WZX4, C8V7P3, C8VJR0, D1MX85, E9KMQ3, G0KYB2, G1XU01, G3Y420, I1RL13, K2RLM2, L0E2R0, L0N063, M2UJ60, M2V933

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
GFI1	“down-regulates quantity by repression”	CYP27B1	“transcriptional regulation”
CYP27B1	“up-regulates quantity”	calcitriol	“chemical modification”
CYP27B1	“down-regulates quantity”	calcidiol	“chemical modification”
PTH1R	“up-regulates quantity”	CYP27B1
MBD4	“up-regulates quantity by expression”	CYP27B1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	58
Likely pathogenic	37
Uncertain significance	178
Likely benign	264
Benign	7

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069143	NM_000785.4(CYP27B1):c.160_161dup (p.Lys55fs)	Pathogenic
1072027	NM_000785.4(CYP27B1):c.1290_1294dup (p.Arg432fs)	Pathogenic
1074854	NM_000785.4(CYP27B1):c.51G>A (p.Trp17Ter)	Pathogenic
1228385	NM_000785.4(CYP27B1):c.497_500del (p.Val166fs)	Pathogenic
1322185	NM_000785.4(CYP27B1):c.403C>T (p.Gln135Ter)	Pathogenic
1324206	NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys)	Pathogenic
1387998	NM_000785.4(CYP27B1):c.1166_1170dup (p.Pro391fs)	Pathogenic
1420062	NM_000785.4(CYP27B1):c.1174_1177del (p.Asp392fs)	Pathogenic
1457427	NM_000785.4(CYP27B1):c.1216-1G>C	Pathogenic
1660	NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro)	Pathogenic
1662	NM_000785.4(CYP27B1):c.631del (p.Glu211fs)	Pathogenic
1663	NM_000785.4(CYP27B1):c.693del (p.Thr232fs)	Pathogenic
1664	NM_000785.4(CYP27B1):c.262del (p.Val88fs)	Pathogenic
1666	NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg)	Pathogenic
1667	NM_000785.4(CYP27B1):c.589+1G>A	Pathogenic
1670	NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs)	Pathogenic
1672	NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly)	Pathogenic
1673	NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe)	Pathogenic
1685687	NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs)	Pathogenic
1931662	NM_000785.4(CYP27B1):c.171del (p.Leu58fs)	Pathogenic
1943277	NM_000785.4(CYP27B1):c.361C>T (p.Gln121Ter)	Pathogenic
2116270	NM_000785.4(CYP27B1):c.466G>T (p.Gly156Ter)	Pathogenic
2137381	NM_000785.4(CYP27B1):c.1136+1G>T	Pathogenic
265095	NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro)	Pathogenic
2720382	NM_000785.4(CYP27B1):c.372C>A (p.Cys124Ter)	Pathogenic
2736763	NM_000785.4(CYP27B1):c.1376dup (p.Leu460fs)	Pathogenic
2743001	NM_000785.4(CYP27B1):c.467del (p.Gly156fs)	Pathogenic
2743897	NM_000785.4(CYP27B1):c.422dup (p.Ala142fs)	Pathogenic
2746809	NM_000785.4(CYP27B1):c.1096del (p.Gln366fs)	Pathogenic
2764378	NM_000785.4(CYP27B1):c.1453dup (p.Ala485fs)	Pathogenic

SpliceAI

863 predictions. Top by Δscore:

Variant	Effect	Δscore
12:57764096:A:AC	donor_gain	1.0000
12:57764097:C:CC	donor_gain	1.0000
12:57764173:CAGT:C	acceptor_gain	1.0000
12:57764177:C:CC	acceptor_gain	1.0000
12:57764182:T:C	acceptor_gain	1.0000
12:57764182:T:TC	acceptor_gain	1.0000
12:57764190:C:CT	acceptor_gain	1.0000
12:57764372:CCTCA:C	donor_loss	1.0000
12:57764373:CTCA:C	donor_loss	1.0000
12:57764374:TCA:T	donor_loss	1.0000
12:57764375:CA:C	donor_loss	1.0000
12:57764377:C:CT	donor_loss	1.0000
12:57764387:T:TA	donor_gain	1.0000
12:57764547:ACACC:A	acceptor_loss	1.0000
12:57764549:ACCT:A	acceptor_loss	1.0000
12:57764550:CCTGA:C	acceptor_loss	1.0000
12:57764551:CTG:C	acceptor_loss	1.0000
12:57764552:T:C	acceptor_loss	1.0000
12:57764748:CCTCA:C	donor_loss	1.0000
12:57764749:CTCA:C	donor_loss	1.0000
12:57764750:TCA:T	donor_loss	1.0000
12:57764751:CAC:C	donor_loss	1.0000
12:57764752:A:AC	donor_gain	1.0000
12:57764753:C:CC	donor_gain	1.0000
12:57764753:C:CT	donor_loss	1.0000
12:57764764:C:CA	donor_gain	1.0000
12:57764818:T:TA	donor_gain	1.0000
12:57764819:C:A	donor_gain	1.0000
12:57764922:CTGAG:C	acceptor_gain	1.0000
12:57764923:TGAG:T	acceptor_gain	1.0000

AlphaMissense

3217 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:57763680:A:C	F448L	0.995
12:57763680:A:T	F448L	0.995
12:57763682:A:G	F448L	0.995
12:57764378:C:G	R379T	0.995
12:57763155:A:G	F505S	0.993
12:57764532:A:G	W328R	0.993
12:57764532:A:T	W328R	0.993
12:57764176:T:A	R379S	0.991
12:57764176:T:G	R379S	0.991
12:57764378:C:A	R379I	0.991
12:57763682:A:T	F448I	0.990
12:57763758:G:C	F422L	0.990
12:57763758:G:T	F422L	0.990
12:57763760:A:G	F422L	0.990
12:57764148:G:T	R389S	0.990
12:57764387:T:A	E376V	0.990
12:57763801:A:T	V408D	0.986
12:57764388:C:T	E376K	0.986
12:57765484:C:A	W134C	0.986
12:57765484:C:G	W134C	0.986
12:57763695:A:C	F443L	0.984
12:57763695:A:T	F443L	0.984
12:57763697:A:G	F443L	0.984
12:57763161:A:G	L503P	0.983
12:57763725:C:A	W433C	0.983
12:57763725:C:G	W433C	0.983
12:57763741:A:G	F428S	0.983
12:57766054:C:A	W113C	0.983
12:57766054:C:G	W113C	0.983
12:57763678:C:T	G449D	0.982

dbSNP variants (sampled 300 via entrez): RS1001021197 (12:57764481 A>T), RS1001556671 (12:57762470 A>T), RS1001780691 (12:57768566 A>C,G), RS1001892726 (12:57764214 G>A,C), RS1002247516 (12:57765508 T>C), RS1002527261 (12:57766578 C>T), RS1002601613 (12:57765127 A>G), RS1003845117 (12:57763733 C>A), RS1003929056 (12:57764020 G>C), RS1005497618 (12:57765834 T>C), RS1006596213 (12:57762085 C>A,G,T), RS1007583468 (12:57768207 G>A,T), RS1007806809 (12:57761963 G>A), RS1008304474 (12:57765639 G>C,T), RS1008590639 (12:57767059 T>C)

Disease associations

OMIM: gene MIM:609506 | disease phenotypes: MIM:264700, MIM:126200

GenCC curated gene-disease

Disease	Classification	Inheritance
vitamin D-dependent rickets, type 1A	Definitive	Autosomal recessive
vitamin D-dependent rickets, type 1	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
vitamin D-dependent rickets, type 1A	Definitive	AR

Mondo (3): vitamin D-dependent rickets, type 1A (MONDO:0020723), vitamin D-dependent rickets, type 1 (MONDO:0009924), multiple sclerosis, susceptibility to (MONDO:0007462)

Orphanet (1): Hypocalcemic vitamin D-dependent rickets (Orphanet:289157)

HPO phenotypes

68 total (30 of 68 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000117	Renal phosphate wasting
HP:0000684	Delayed eruption of teeth
HP:0000737	Irritability
HP:0000867	Secondary hyperparathyroidism
HP:0000886	Deformed rib cage
HP:0000893	Bulging of the costochondral junction
HP:0000897	Rachitic rosary
HP:0000920	Enlargement of the costochondral junction
HP:0001252	Hypotonia
HP:0001270	Motor delay
HP:0001281	Tetany
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001538	Protuberant abdomen
HP:0001638	Cardiomyopathy
HP:0001744	Splenomegaly
HP:0001931	Hypochromic anemia
HP:0001942	Metabolic acidosis
HP:0001974	Increased total leukocyte count
HP:0002007	Frontal bossing
HP:0002148	Hypophosphatemia
HP:0002199	Hypocalcemic seizures
HP:0002240	Hepatomegaly
HP:0002653	Bone pain
HP:0002659	Increased susceptibility to fractures
HP:0002663	Delayed epiphyseal ossification

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000425_3	Multiple sclerosis	5.000000e-11
GCST001198_1	Multiple sclerosis	2.000000e-09
GCST010703_209	Brain morphology (MOSTest)	2.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C562688	Vitamin D Hydroxylation-Deficient Rickets, Type 1A (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5993 (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: 75,361 (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
CHEMBL157101	KETOCONAZOLE	4	75,361

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

PharmGKB clinical annotations

3 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10877012	Efficacy	3	peginterferon alfa-2b;ribavirin	Chronic hepatitis C virus infection
rs10877012	Efficacy	3	deferasirox	Beta-thalassemia and related diseases
rs4646536	Toxicity	3	tenofovir disoproxil fumarate	HIV infectious disease;Nephrotoxicity

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10877012	CYP27B1, METTL1	3	2.00	2	peginterferon alfa-2b;ribavirin;deferasirox
rs4646536	CYP27B1	3	3.25	1	tenofovir disoproxil fumarate

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — CYP24, CYP26 and CYP27 families

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
CTA091	Inhibition	6.26	pIC50

Binding affinities (BindingDB)

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

Ligand	Measure	Value
AB47	KI	21 nM
VIMI	KI	21 nM
24F2-1,25(OH)D3	KI	24 nM
TS17	KI	39 nM
CPA1	KI	42 nM
24COOH-25(OH)D3	KI	90 nM

ChEMBL bioactivities

10 potent at pChembl≥5 of 10 total, top 9 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.22	IC50	60.2	nM	CHEMBL4099180
7.02	IC50	95.2	nM	CHEMBL4081152
6.47	IC50	340	nM	KETOCONAZOLE
6.39	IC50	410	nM	CHEMBL4074768
6.26	IC50	554	nM	CHEMBL389014
6.26	IC50	554	nM	CHEMBL255088
6.24	IC50	570	nM	CHEMBL4104395
6.21	IC50	616.1	nM	CHEMBL1170908
6.21	IC50	616	nM	CHEMBL253613

PubChem BioAssay actives

17 with measured affinity, of 20 total; 15 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
1-[4-[4-[[(2R,4S)-2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]ethanone	1799838: CYP27B1 Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.”	ki	0.0530	uM
2-(2,4-dichlorophenyl)-1-[1-[2-(dimethylamino)ethyl]tetrazol-5-yl]sulfanyl-3-imidazol-1-ylpropan-2-ol	1464254: Inhibition of human CYP27B1	ic50	0.0602	uM
[(2R)-2-[(4E,7aR)-4-[(2Z)-2-[(5R)-5-hydroxy-2-methylidenecyclohexylidene]ethylidene]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-1-yl]propyl] 2-bromoacetate	1799838: CYP27B1 Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.”	ki	0.0680	uM
cis-(1S,3R)-5-[(2E)-2-[(7aR)-1-[(2R)-1-imidazol-1-ylpropan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-2-methylidenecyclohexane-1,3-diol	1799838: CYP27B1 Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.”	ki	0.0900	uM
N-[1-(2,4-dichlorophenyl)-2-imidazol-1-ylethyl]-5-(dimethylamino)naphthalene-1-sulfonamide	1464254: Inhibition of human CYP27B1	ic50	0.0952	uM
1-[4-[4-[[2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]ethanone	1464256: Inhibition of human CYP27B1 expressed in Escherichia coli assessed as reduction in hydrolase activity incubated for 25 mins using Adx, AdR and 1,25(OH)2D3	ic50	0.3400	uM
5-methyl-4-[(3-methyl-5-oxo-1,2-dihydropyrazol-4-yl)-[3-(pyridin-4-ylmethoxy)phenyl]methyl]-1,2-dihydropyrazol-3-one	1464256: Inhibition of human CYP27B1 expressed in Escherichia coli assessed as reduction in hydrolase activity incubated for 25 mins using Adx, AdR and 1,25(OH)2D3	ic50	0.4100	uM
trans-(1R,3S,5Z)-5-[(2E)-2-[(7aS)-7a-methyl-1-[(2R)-4-(phenylsulfonimidoyl)butan-2-yl]-3a,5,6,7-tetrahydro-3H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol	311067: Inhibition of CYP27B1	ic50	0.5540	uM
trans-(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-7a-methyl-1-[(2R)-4-(phenylsulfonimidoyl)butan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol	1704648: Inhibition of CYP27B in human SW900 cells using 3H-(23,24)-25-(OH)D3 as substrate incubated for 5 hrs by HPLC method	ic50	0.5540	uM
5-methyl-4-[(3-methyl-5-oxo-1,2-dihydropyrazol-4-yl)-[4-(pyridin-4-ylmethoxy)phenyl]methyl]-1,2-dihydropyrazol-3-one	1464256: Inhibition of human CYP27B1 expressed in Escherichia coli assessed as reduction in hydrolase activity incubated for 25 mins using Adx, AdR and 1,25(OH)2D3	ic50	0.5700	uM
4-(4-chlorophenyl)-N-(2-imidazol-1-yl-2-phenylethyl)benzamide	311065: Inhibition of CYP27B1 in human keratinocytes	ic50	0.6160	uM
4-(4-chlorophenyl)-N-[(2R)-2-imidazol-1-yl-2-phenylethyl]benzamide	1464254: Inhibition of human CYP27B1	ic50	0.6161	uM
[(4S)-4-[(4E,7aR)-4-[(2Z)-2-[(5R)-5-hydroxy-2-methylidenecyclohexylidene]ethylidene]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-1-yl]pentyl] 4-methylbenzenesulfonate	1799838: CYP27B1 Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.”	ki	1.5200	uM
(4S)-4-[(4E,7aR)-4-[(2Z)-2-[(5R)-5-hydroxy-2-methylidenecyclohexylidene]ethylidene]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-1-yl]pentanoic acid	1799838: CYP27B1 Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.”	ki	1.7000	uM
cis-(1R,3S)-5-[(2E)-2-[(7aR)-1-[(2S)-5-(cyclopropylamino)pentan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-2-methylidenecyclohexane-1,3-diol	1799838: CYP27B1 Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.”	ki	3.3400	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Calcitriol	increases expression, decreases chemical synthesis, increases chemical synthesis	3
Estradiol	affects activity, affects expression, increases activity, increases expression	3
biochanin A	affects activity, affects expression, increases activity, increases expression	2
25-hydroxyvitamin D	affects abundance, increases expression, increases reaction	2
Benzo(a)pyrene	increases expression, increases methylation	2
Calcifediol	increases expression, increases reaction, increases hydroxylation, affects metabolic processing	2
Lipopolysaccharides	increases expression, increases reaction, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	decreases methylation, increases expression	2
Genistein	affects activity, affects expression, increases activity, increases expression	2
aristolochic acid I	increases expression	1
lead acetate	decreases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	increases reaction, affects binding	1
SB 203580	increases expression, decreases reaction	1
alpha-cyano-(3,4-dihydroxy)-N-benzylcinnamide	decreases reaction, increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
jinfukang	decreases expression, increases reaction	1
NSC 689534	affects binding, increases expression	1
Temozolomide	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	increases methylation	1
Cisplatin	decreases expression, increases reaction	1

ChEMBL screening assays

7 unique, capped per target: 6 binding, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2039997	ADMET	Drug metabolism assessed as human CYP27B1-mediated compound metabolism after 2 to 12 mins incubation using compound loaded phospholipid vesicle by reverse phase HPLC	Design, synthesis, and biological action of 20R-hydroxyvitamin D3. — J Med Chem
CHEMBL4047051	Binding	Inhibition of human CYP27B1	Analysis of the binding sites of vitamin D 1α-hydroxylase (CYP27B1) and vitamin D 24-hydroxylase (CYP24A1) for the design of selective CYP24A1 inhibitors: Homology modelling, molecular dynamics simulations and identification of key binding requirements. — Bioorg Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D8JT	Ubigene HCT 116 CYP27B1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06384976	PHASE2	ACTIVE_NOT_RECRUITING	KYSA-7: A Study of Anti-CD19 CAR T-Cell Therapy, in Subjects With Refractory Primary and Secondary Progressive Multiple Sclerosis
NCT06782724	PHASE2	RECRUITING	Psilocybin Therapy for Psychological Distress in Palliative Patients
NCT05102682	PHASE1	COMPLETED	Robotics for Mobility Rehabilitation in MS
NCT06999434	PHASE1	RECRUITING	Exploring the Utility of [18F]3F4AP for Demyelination Imaging
NCT00872053	PHASE1/PHASE2	COMPLETED	Effect of Robot-assisted Training on Foot Drop in Multiple Sclerosis
NCT06548620	EARLY_PHASE1	WITHDRAWN	A Study of RD06-04 in Patients With Active Autoimmune Diseases
NCT06775912	EARLY_PHASE1	RECRUITING	Clinical Study on Targeted CD19/BCMA CAR-T Therapy for Autoimmune Diseases
NCT01128075	Not specified	COMPLETED	Treatment Adherence When Using RebiSmart™ in Relapsing Multiple Sclerosis Subjects
NCT01628276	Not specified	COMPLETED	Brain Functional Connectivity Changes Following Cognitive Rehabilitation in Multiple Sclerosis: an fMRI Study
NCT02490943	Not specified	COMPLETED	A Pilot Study of Warm and Cold Compress to Reduce Injection Site Erythema Due to Peginterferon-beta-1a in MS
NCT03155334	Not specified	UNKNOWN	Understanding Evaluation of Patient Information Sheets by User Testing Method
NCT03316404	Not specified	COMPLETED	Evaluating Multiple Sclerosis Patients ShOWing A GEnomic Signature of Therapy Response
NCT04095377	Not specified	COMPLETED	Development of Automated Analysis to Electroencephelogram (EEG) Data in Patients Treated at the Sagol Hyperbaric Medicine and Research Center at the Years 2017-2019.
NCT04148313	Not specified	WITHDRAWN	A Pilot Study to Explore the Role of Gut Flora in Multiple Sclerosis
NCT04379661	Not specified	COMPLETED	SUNLIGHT Study: Online Support Groups for MS to Address COVID-19
NCT04415372	Not specified	ENROLLING_BY_INVITATION	Macromolecular Imaging of White and Gray Matter Pathology in Multiple Sclerosis
NCT04530955	Not specified	UNKNOWN	Transitioning to a Valve-Gated Intrathecal Drug Delivery System (IDDS)
NCT04822623	Not specified	UNKNOWN	Imaging Evaluation of Central Nervous Autoimmune Diseases
NCT05435404	Not specified	COMPLETED	Qualitative Study Patient & Physician Experiences Botox COVID-19
NCT05857280	Not specified	UNKNOWN	EXOPULSE Mollii Suit, Motor Function & Multiple Sclerosis (EXOSEP 2)
NCT05865405	Not specified	ACTIVE_NOT_RECRUITING	A Closed Loop, Doctor to Patient, Mobile Application for Depression in People With Multiple Sclerosis
NCT05912595	Not specified	UNKNOWN	EXOPULSE Mollii Suit, Spasticity, Muscular Oxygenation & Multiple Sclerosis (ENNOX 2)
NCT05991297	Not specified	COMPLETED	Effects of Deep Sensory Assisted Rehabilitation on Gait and Balance in Patients With Multiple Sclerosis
NCT06143930	Not specified	UNKNOWN	Blood Flow Restriction Training in Multiple Sclerosis
NCT06199219	Not specified	COMPLETED	Ex-Plissit Model Based Counseling on Sexual Function and Sexual Satisfaction
NCT06770959	Not specified	NOT_YET_RECRUITING	Frequency of Gastrointestinal and Hepatic Manifestations Among Patients with Multiple Sclerosis, a Clinical Hospital Based Study
NCT06849882	Not specified	RECRUITING	Dubousset Functional Test: an Investigation of Its Validity and Reliability in Individuals with Multiple Sclerosis
NCT07087873	Not specified	RECRUITING	Assessment of Transcranial Alternating Current Stimulation’s Clinical Efficacy in Treating Cognitive Impairment of Idiopathic Inflammatory Demyelinating Diseases
NCT07202195	Not specified	RECRUITING	At Home Use of Stimulation Suits for Managing MS Symptoms
NCT07222618	Not specified	RECRUITING	Selfie Videos: A Novel, Patient-centered, Comprehensive Approach to Measuring Function in MS
NCT07235644	Not specified	ACTIVE_NOT_RECRUITING	Comparison of Efficacy and Safety in Patients Switching From MabThera® to Rixathon® in Relapsing-Remitting Multiple Sclerosis
NCT07304960	Not specified	NOT_YET_RECRUITING	Multiple Sclerosis Versus Neuromyelitis Optica Spectrum Disorder
NCT07521384	Not specified	ENROLLING_BY_INVITATION	Real World Outcomes of Intranasal MuSE Exosomes and Stem Cells in Neurological Regenerative Therapy