CYP26C1
geneOn this page
Summary
CYP26C1 (cytochrome P450 family 26 subfamily C member 1, HGNC:20577) is a protein-coding gene on chromosome 10q23.33, encoding Cytochrome P450 26C1 (Q6V0L0). A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals.
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. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33.
Source: NCBI Gene 340665 — RefSeq curated summary.
At a glance
- Gene–disease (curated): focal facial dermal dysplasia type IV (Strong, GenCC)
- GWAS associations: 7
- Clinical variants (ClinVar): 122 total — 1 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 19
- MANE Select transcript:
NM_183374
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20577 |
| Approved symbol | CYP26C1 |
| Name | cytochrome P450 family 26 subfamily C member 1 |
| Location | 10q23.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000187553 |
| Ensembl biotype | protein_coding |
| OMIM | 608428 |
| Entrez | 340665 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 nonsense_mediated_decay, 1 protein_coding
ENST00000624358, ENST00000651965
RefSeq mRNA: 1 — MANE Select: NM_183374
NM_183374
CCDS: CCDS7425
Canonical transcript exons
ENST00000651965 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001092330 | 93062010 | 93062234 |
| ENSE00001327579 | 93062720 | 93062995 |
| ENSE00001376608 | 93064381 | 93064536 |
| ENSE00001803538 | 93065956 | 93066285 |
| ENSE00003843667 | 93068320 | 93069540 |
| ENSE00003844678 | 93060798 | 93061467 |
Expression profiles
Bgee: expression breadth broad, 15 present calls, max score 54.83.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0737 / max 13.2966, expressed in 34 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106268 | 0.0737 | 34 |
Top tissues by expression
113 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 54.83 | silver quality |
| colonic epithelium | UBERON:0000397 | 48.90 | gold quality |
| prefrontal cortex | UBERON:0000451 | 45.02 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 42.64 | silver quality |
| bone marrow cell | CL:0002092 | 42.12 | gold quality |
| placenta | UBERON:0001987 | 42.02 | silver quality |
| frontal cortex | UBERON:0001870 | 40.14 | silver quality |
| cortical plate | UBERON:0005343 | 39.96 | gold quality |
| gall bladder | UBERON:0002110 | 38.94 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 38.78 | gold quality |
| stromal cell of endometrium | CL:0002255 | 38.75 | gold quality |
| spleen | UBERON:0002106 | 38.60 | silver quality |
| cerebral cortex | UBERON:0000956 | 37.68 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 37.55 | gold quality |
| blood | UBERON:0000178 | 37.22 | gold quality |
| duodenum | UBERON:0002114 | 37.20 | silver quality |
| myometrium | UBERON:0001296 | 36.72 | silver quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| muscle tissue | UBERON:0002385 | 36.42 | gold quality |
| right coronary artery | UBERON:0001625 | 36.04 | gold quality |
| sural nerve | UBERON:0015488 | 35.97 | gold quality |
| substantia nigra | UBERON:0002038 | 35.73 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 35.57 | silver quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 35.39 | gold quality |
| lymph node | UBERON:0000029 | 35.10 | gold quality |
| bone marrow | UBERON:0002371 | 34.79 | gold quality |
| Ammon’s horn | UBERON:0001954 | 34.64 | silver quality |
| endometrium | UBERON:0001295 | 34.08 | gold quality |
| granulocyte | CL:0000094 | 34.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.97 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 9)
- may play a specific role in catabolizing both all-trans and 9-cis isomers of retinoic acid. (PMID:14532297)
- CYP26A1 and CYP26C1 play a pivotal role in the pathogenesis of nonsyndromic bilateral and unilateral optic nerve aplasia. (PMID:21850183)
- Focal facial dermal dysplasia, type IV results from the loss of function mutations in CYP26C1. (PMID:23161670)
- Elevated expression of CYP26C1 in primary breast carcinomas (PMID:26009309)
- Together, these findings describe CYP26C1 as the first genetic modifier for SHOX deficiency. (PMID:27861128)
- findings suggest that CYP26C1 is a 4-oxo-atRA hydroxylase and may be important in regulating the concentrations of this active retinoid in human tissues (PMID:29476041)
- CYP26C1 missense variants and one splicing variant were identified in six independent individuals with idiopathic short stature. (PMID:29706635)
- This review highlights the current knowledge of structure-function of CYP26 enzymes and focuses on their role in human retinoid metabolism in different tissues. (PMID:31419517)
- Association of CYP26C1 Promoter Hypomethylation with Small Vessel Occlusion in Korean Subjects. (PMID:34681016)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cyp26c1 | ENSDARG00000056029 |
| mus_musculus | Cyp26c1 | ENSMUSG00000062432 |
| rattus_norvegicus | Cyp26c1 | ENSRNOG00000030698 |
Paralogs (2): CYP26B1 (ENSG00000003137), CYP26A1 (ENSG00000095596)
Protein
Protein identifiers
Cytochrome P450 26C1 — Q6V0L0 (reviewed: Q6V0L0)
All UniProt accessions (2): A0A096LNL5, Q6V0L0
UniProt curated annotations — full annotation on UniProt →
Function. A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals. RAs exist as at least four different isomers: all-trans-RA (atRA), 9-cis-RA, 13-cis-RA, and 9,13-dicis-RA, where atRA is considered to be the biologically active isomer, although 9-cis-RA and 13-cis-RA also have activity. Catalyzes the oxidation of atRA primarily at C-4. Oxidation of atRA limits its biological activity and initiates a degradative process leading to its eventual elimination, thereby contributes to the regulation of atRA homeostasis and signaling. Able to metabolize other RAs such as 9-cis with high efficiency. Can oxidize all-trans-13,14-dihydroretinoate (DRA) to metabolites which could include all-trans-4-oxo-DRA, all-trans-4-hydroxy-DRA, all-trans-5,8-epoxy-DRA, and all-trans-18-hydroxy-DRA. Shares sequence similarity with other CYP26 family members, but has higher affinity to 9-cis-RA and is much less sensitive to the inhibitory effects of ketoconazole. In cooperation with Cyp26a1, contributes to the CNS patterning and the development of regions of higher visual acuity.
Subcellular location. Membrane.
Tissue specificity. Detected in most tissues at very low level.
Disease relevance. Focal facial dermal dysplasia 4 (FFDD4) [MIM:614974] A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions. The disease is caused by variants affecting the gene represented in this entry.
Induction. By retinoic acid.
Similarity. Belongs to the cytochrome P450 family.
RefSeq proteins (1): NP_899230* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001128 | Cyt_P450 | Family |
| IPR002403 | Cyt_P450_E_grp-IV | Family |
| IPR017972 | Cyt_P450_CS | Conserved_site |
| IPR036396 | Cyt_P450_sf | Homologous_superfamily |
Pfam: PF00067
Catalyzed reactions (Rhea), 7 shown:
- an organic molecule + reduced [NADPH–hemoprotein reductase] + O2 = an alcohol + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:17149)
- all-trans-retinoate + reduced [NADPH–hemoprotein reductase] + O2 = all-trans-4-hydroxyretinoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:51984)
- 9-cis-retinoate + reduced [NADPH–hemoprotein reductase] + O2 = 9-cis-4-hydroxyretinoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:75847)
- all-trans-4-hydroxyretinoate + reduced [NADPH–hemoprotein reductase] + O2 = all-trans-4-oxoretinoate + oxidized [NADPH–hemoprotein reductase] + 2 H2O + H(+) (RHEA:75851)
- 9-cis-4-hydroxyretinoate + reduced [NADPH–hemoprotein reductase] + O2 = 9-cis-4-oxoretinoate + oxidized [NADPH–hemoprotein reductase] + 2 H2O + H(+) (RHEA:75855)
- all-trans-4-hydroxy-13,14-dihydroretinoate + reduced [NADPH–hemoprotein reductase] + O2 = all-trans-4-oxo-13,14-dihydroretinoate + oxidized [NADPH–hemoprotein reductase] + 2 H2O + H(+) (RHEA:75859)
- all-trans-13,14-dihydroretinoate + reduced [NADPH–hemoprotein reductase] + O2 = all-trans-4-hydroxy-13,14-dihydroretinoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:75863)
UniProt features (5 total): chain 1, transmembrane region 1, binding site 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6V0L0-F1 | 89.34 | 0.77 |
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): 459 (axial binding residue)
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-211916 | Vitamins |
| R-HSA-5365859 | RA biosynthesis pathway |
| R-HSA-5579004 | Defective CYP26C1 causes FFDD4 |
MSigDB gene sets: 126 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, BENPORATH_ES_WITH_H3K27ME3, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_REGULATION_OF_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_RETINOIC_ACID_RECEPTOR_SIGNALING_PATHWAY, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_RETINOIC_ACID_METABOLIC_PROCESS, GOBP_RESPONSE_TO_HORMONE
GO Biological Process (8): vitamin metabolic process (GO:0006766), central nervous system development (GO:0007417), anterior/posterior pattern specification (GO:0009952), neural crest cell development (GO:0014032), retinoic acid catabolic process (GO:0034653), organelle fusion (GO:0048284), negative regulation of retinoic acid receptor signaling pathway (GO:0048387), lipid metabolic process (GO:0006629)
GO Molecular Function (9): retinoic acid binding (GO:0001972), monooxygenase activity (GO:0004497), iron ion binding (GO:0005506), retinoic acid 4-hydroxylase activity (GO:0008401), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712), heme binding (GO:0020037), 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 (2): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Cytochrome P450 - arranged by substrate type | 1 |
| Signaling by Retinoic Acid | 1 |
| Metabolic disorders of biological oxidation enzymes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| oxidoreductase activity | 2 |
| monooxygenase activity | 2 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | 2 |
| small molecule metabolic process | 1 |
| nervous system development | 1 |
| system development | 1 |
| regionalization | 1 |
| neural crest cell differentiation | 1 |
| stem cell development | 1 |
| diterpenoid catabolic process | 1 |
| fat-soluble vitamin catabolic process | 1 |
| retinoic acid metabolic process | 1 |
| monocarboxylic acid catabolic process | 1 |
| organelle organization | 1 |
| retinoic acid receptor signaling pathway | 1 |
| regulation of retinoic acid receptor signaling pathway | 1 |
| negative regulation of intracellular signal transduction | 1 |
| primary metabolic process | 1 |
| retinoid binding | 1 |
| monocarboxylic acid binding | 1 |
| transition metal ion binding | 1 |
| tetrapyrrole binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1196 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CYP26C1 | ALDH1A2 | O94788 | 825 |
| CYP26C1 | STRA8 | Q7Z7C7 | 823 |
| CYP26C1 | CRABP2 | P29373 | 722 |
| CYP26C1 | CRABP1 | P29762 | 701 |
| CYP26C1 | ALDH1A3 | P47895 | 640 |
| CYP26C1 | RDH10 | Q8IZV5 | 637 |
| CYP26C1 | RBP2 | P50120 | 634 |
| CYP26C1 | RARS1 | P54136 | 608 |
| CYP26C1 | RARB | P10826 | 531 |
| CYP26C1 | RARG | P13631 | 519 |
| CYP26C1 | HOXB1 | P14653 | 501 |
| CYP26C1 | STRA6 | Q9BX79 | 500 |
| CYP26C1 | LRRC30 | A6NM36 | 497 |
| CYP26C1 | SDR9C7 | Q8NEX9 | 495 |
| CYP26C1 | ALDH1A1 | P00352 | 490 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (1): CYP26C1 (Protein-peptide)
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: A0A087X1C5, A0A098CZ12, A0A0B5KYT4, A0A179HLW2, A0A1B4XBH1, A0A1L7VEQ8, A0A1L9URA0, A0A1U8QFC3, A0A1W5T1Y6, A0A2L0P0J8, A0A2Z5D854, A0A2Z6FZ19, A0A343URW7, A0A384JQH2, A0A3Q9FEJ4, A0A3Q9R4N5, A0A411KZZ4, A0A481WNM6, A0A517FNC7, A7VMU4, A8CDR5, B2RXA7, B3FWR7, B4FVP3, C9K202, F4JW83, G1XU01, G3JUI6, G3XSI3, K0E684, M2V0Z8, O18992, O22307, O23066, O46658, O55071, P04167, P05185, P10635, P11715
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
122 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 3 |
| Uncertain significance | 91 |
| Likely benign | 15 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2081971 | NM_183374.3(CYP26C1):c.457_481del (p.Ala153fs) | Pathogenic |
| 3065284 | NM_183374.3(CYP26C1):c.1191+1G>A | Likely pathogenic |
| 4685469 | NM_183374.3(CYP26C1):c.1238_1260del (p.Asp413fs) | Likely pathogenic |
| 4845661 | NM_183374.3(CYP26C1):c.1056C>A (p.Cys352Ter) | Likely pathogenic |
SpliceAI
749 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:93064532:TGAAG:T | donor_loss | 1.0000 |
| 10:93064537:G:A | donor_loss | 1.0000 |
| 10:93066283:GAC:G | donor_gain | 1.0000 |
| 10:93066286:G:GG | donor_gain | 1.0000 |
| 10:93061466:AG:A | donor_loss | 0.9900 |
| 10:93061467:GGTGA:G | donor_loss | 0.9900 |
| 10:93061469:T:A | donor_loss | 0.9900 |
| 10:93062008:AG:A | acceptor_gain | 0.9900 |
| 10:93062009:GG:G | acceptor_gain | 0.9900 |
| 10:93062231:CAAG:C | donor_loss | 0.9900 |
| 10:93062232:AAGG:A | donor_loss | 0.9900 |
| 10:93062233:AGG:A | donor_loss | 0.9900 |
| 10:93062236:T:A | donor_loss | 0.9900 |
| 10:93062992:CAAGG:C | donor_loss | 0.9900 |
| 10:93062993:AAGGT:A | donor_loss | 0.9900 |
| 10:93062994:AGGTA:A | donor_loss | 0.9900 |
| 10:93062996:GTAC:G | donor_loss | 0.9900 |
| 10:93062997:T:G | donor_loss | 0.9900 |
| 10:93064371:T:A | acceptor_gain | 0.9900 |
| 10:93064376:A:AG | acceptor_gain | 0.9900 |
| 10:93064376:ATCAG:A | acceptor_gain | 0.9900 |
| 10:93064377:T:G | acceptor_gain | 0.9900 |
| 10:93065955:GGA:G | acceptor_gain | 0.9900 |
| 10:93066282:CGAC:C | donor_gain | 0.9900 |
| 10:93066283:GACG:G | donor_gain | 0.9900 |
| 10:93066284:AC:A | donor_gain | 0.9900 |
| 10:93066284:ACGT:A | donor_loss | 0.9900 |
| 10:93066285:CGTA:C | donor_loss | 0.9900 |
| 10:93066286:GTA:G | donor_loss | 0.9900 |
| 10:93066287:TAAG:T | donor_loss | 0.9900 |
AlphaMissense
3314 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:93068482:T:C | F452L | 0.998 |
| 10:93068484:C:A | F452L | 0.998 |
| 10:93068484:C:G | F452L | 0.998 |
| 10:93062019:T:C | F72L | 0.997 |
| 10:93062021:C:A | F72L | 0.997 |
| 10:93062021:C:G | F72L | 0.997 |
| 10:93062055:T:C | F84L | 0.997 |
| 10:93062057:C:A | F84L | 0.997 |
| 10:93062057:C:G | F84L | 0.997 |
| 10:93066257:G:C | R388P | 0.997 |
| 10:93066256:C:A | R388S | 0.996 |
| 10:93068356:A:C | S410R | 0.996 |
| 10:93068358:C:A | S410R | 0.996 |
| 10:93068358:C:G | S410R | 0.996 |
| 10:93066001:A:C | S303R | 0.995 |
| 10:93066003:T:A | S303R | 0.995 |
| 10:93066003:T:G | S303R | 0.995 |
| 10:93068482:T:A | F452I | 0.994 |
| 10:93062089:G:C | R95P | 0.992 |
| 10:93066007:A:C | S305R | 0.992 |
| 10:93066009:C:A | S305R | 0.992 |
| 10:93066009:C:G | S305R | 0.992 |
| 10:93066217:G:A | E375K | 0.992 |
| 10:93066218:A:T | E375V | 0.992 |
| 10:93066226:C:A | R378S | 0.992 |
| 10:93068341:T:A | W405R | 0.992 |
| 10:93068341:T:C | W405R | 0.992 |
| 10:93068572:T:A | W482R | 0.992 |
| 10:93068572:T:C | W482R | 0.992 |
| 10:93062020:T:C | F72S | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000279251 (10:93059535 G>A), RS1000323921 (10:93065038 T>C), RS1000435806 (10:93065352 A>G), RS1000488109 (10:93065139 C>A), RS1000661834 (10:93063788 G>T), RS1000820102 (10:93066454 GCTGA>G), RS1000956189 (10:93060501 G>T), RS1001292721 (10:93069401 A>G), RS1001830774 (10:93065732 TC>T), RS1001946936 (10:93066050 T>C), RS1002140565 (10:93059421 G>A), RS1002451601 (10:93063887 T>C), RS1002454116 (10:93063356 T>C), RS1002718943 (10:93060859 C>G), RS1002775906 (10:93069388 A>G)
Disease associations
OMIM: gene MIM:608428 | disease phenotypes: MIM:614974
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| focal facial dermal dysplasia type IV | Strong | Autosomal recessive |
Mondo (1): focal facial dermal dysplasia type IV (MONDO:0013997)
Orphanet (3): Microphthalmia-anophthalmia-coloboma (Orphanet:98555), Focal facial dermal dysplasia (Orphanet:398166), Focal facial dermal dysplasia type IV (Orphanet:398189)
HPO phenotypes
19 total (19 of 19 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000175 | Cleft palate |
| HP:0000204 | Cleft upper lip |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000331 | Short chin |
| HP:0001028 | Hemangioma |
| HP:0001269 | Hemiparesis |
| HP:0002170 | Intracranial hemorrhage |
| HP:0003764 | Nevus |
| HP:0004426 | Abnormal cheek morphology |
| HP:0007359 | Focal-onset seizure |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0011124 | Abnormal epidermal morphology |
| HP:0011336 | Bitemporal forceps marks |
| HP:0025167 | Fragmented elastic fibers in the dermis |
| HP:0100494 | Abnormal mast cell morphology |
| HP:0100699 | Scarring |
| HP:3000019 | Abnormal buccal mucosa morphology |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005407_1 | Glaucoma (primary open-angle) | 2.000000e-06 |
| GCST006003_19 | Triglyceride levels | 4.000000e-16 |
| GCST007876_115 | Estimated glomerular filtration rate | 1.000000e-09 |
| GCST010002_297 | Refractive error | 3.000000e-23 |
| GCST010241_431 | Apolipoprotein A1 levels | 6.000000e-12 |
| GCST010796_3318 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST011345_14 | Triglyceride levels | 5.000000e-18 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — CYP24, CYP26 and CYP27 families
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Alitretinoin | affects binding, decreases reaction, increases metabolic processing, increases expression | 2 |
| Tretinoin | affects binding, decreases reaction, increases metabolic processing, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol A | increases methylation | 1 |
| potassium perchlorate | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Biological Factors | decreases expression | 1 |
| Ketoconazole | decreases reaction, increases metabolic processing | 1 |
| Lead | affects expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: focal facial dermal dysplasia type IV
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): focal facial dermal dysplasia type IV, open-angle glaucoma