Details for: CYP17A1

Gene ID: 1586

Symbol: CYP17A1

Ensembl ID: ENSG00000148795

Description: cytochrome P450 family 17 subfamily A member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 21.1638
    Cell Significance Index: 567.0900
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 14.7224
    Cell Significance Index: -2.2900
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 13.5102
    Cell Significance Index: 67.4000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 9.0284
    Cell Significance Index: -2.2900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 2.2414
    Cell Significance Index: -2.1400
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.0275
    Cell Significance Index: 11.3200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.5411
    Cell Significance Index: 33.1800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.5190
    Cell Significance Index: 7.2800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.4955
    Cell Significance Index: 15.8700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.4068
    Cell Significance Index: 85.6900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.3977
    Cell Significance Index: 6.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3600
    Cell Significance Index: 7.8000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1903
    Cell Significance Index: 5.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.1775
    Cell Significance Index: 100.1100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1546
    Cell Significance Index: 29.4300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.1531
    Cell Significance Index: 113.4200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.1419
    Cell Significance Index: 2.0600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1047
    Cell Significance Index: 10.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0871
    Cell Significance Index: 78.6200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0698
    Cell Significance Index: 43.6000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0540
    Cell Significance Index: 8.7800
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.0442
    Cell Significance Index: 0.5200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0384
    Cell Significance Index: 4.1800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0342
    Cell Significance Index: 0.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0321
    Cell Significance Index: 1.4600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0313
    Cell Significance Index: 5.3400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0303
    Cell Significance Index: 0.5100
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.0294
    Cell Significance Index: 0.3800
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.0288
    Cell Significance Index: 0.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0268
    Cell Significance Index: 0.5700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0253
    Cell Significance Index: 0.3600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0148
    Cell Significance Index: 1.0300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0111
    Cell Significance Index: 1.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0108
    Cell Significance Index: 0.3100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0089
    Cell Significance Index: 1.0200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0082
    Cell Significance Index: 0.4900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.0063
    Cell Significance Index: 0.5000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0015
    Cell Significance Index: 0.6600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0001
    Cell Significance Index: -0.2000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0005
    Cell Significance Index: -0.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0007
    Cell Significance Index: -1.3400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0011
    Cell Significance Index: -0.7800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0013
    Cell Significance Index: -2.0600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0013
    Cell Significance Index: -0.0600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0017
    Cell Significance Index: -0.0600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0021
    Cell Significance Index: -2.9200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0025
    Cell Significance Index: -1.5600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0026
    Cell Significance Index: -0.5300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0036
    Cell Significance Index: -1.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0039
    Cell Significance Index: -0.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0051
    Cell Significance Index: -2.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0051
    Cell Significance Index: -1.8400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0051
    Cell Significance Index: -0.1400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0052
    Cell Significance Index: -0.1300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0054
    Cell Significance Index: -0.2800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0065
    Cell Significance Index: -1.8600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0070
    Cell Significance Index: -1.3900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0085
    Cell Significance Index: -1.5400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0085
    Cell Significance Index: -1.2400
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0101
    Cell Significance Index: -0.1300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0105
    Cell Significance Index: -0.1600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0112
    Cell Significance Index: -0.5900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0116
    Cell Significance Index: -0.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0126
    Cell Significance Index: -1.2900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0131
    Cell Significance Index: -1.8000
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0133
    Cell Significance Index: -0.1900
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0137
    Cell Significance Index: -0.1100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0150
    Cell Significance Index: -1.8500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0152
    Cell Significance Index: -0.7700
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0220
    Cell Significance Index: -0.2600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0220
    Cell Significance Index: -2.8400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0222
    Cell Significance Index: -2.3100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0227
    Cell Significance Index: -0.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0261
    Cell Significance Index: -2.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0291
    Cell Significance Index: -0.8100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0306
    Cell Significance Index: -1.2500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0315
    Cell Significance Index: -0.8100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0323
    Cell Significance Index: -0.4300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0333
    Cell Significance Index: -2.2400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0364
    Cell Significance Index: -2.2400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0365
    Cell Significance Index: -2.7200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0372
    Cell Significance Index: -1.9400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0384
    Cell Significance Index: -0.7500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0393
    Cell Significance Index: -0.6300
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0406
    Cell Significance Index: -0.5700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0406
    Cell Significance Index: -0.8500
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0423
    Cell Significance Index: -0.5800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0470
    Cell Significance Index: -1.0300
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0470
    Cell Significance Index: -0.8100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0484
    Cell Significance Index: -0.7300
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0497
    Cell Significance Index: -0.6800
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0504
    Cell Significance Index: -0.5400
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.0511
    Cell Significance Index: -0.5300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0515
    Cell Significance Index: -2.2800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0524
    Cell Significance Index: -2.9400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0531
    Cell Significance Index: -0.9000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0531
    Cell Significance Index: -2.5000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0545
    Cell Significance Index: -1.9100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0590
    Cell Significance Index: -2.0500
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.0599
    Cell Significance Index: -0.6700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Expression Pattern:** CYP17A1 is highly expressed in tissues involved in steroid hormone biosynthesis, such as the adrenal gland, gonads, and liver. 2. **Enzymatic Activity:** CYP17A1 is a 17-alpha-hydroxyprogesterone aldolase, responsible for converting 17-alpha-hydroxyprogesterone to DHEA. 3. **Substrate Specificity:** CYP17A1 has a high affinity for 17-alpha-hydroxyprogesterone and DHEA, but also exhibits activity towards other substrates, including androgens and estrogens. 4. **Regulation:** CYP17A1 expression is regulated by various factors, including steroid hormones, growth factors, and transcriptional co-regulators. **Pathways and Functions:** 1. **Steroidogenesis:** CYP17A1 is a critical enzyme in the steroidogenesis pathway, responsible for converting 17-alpha-hydroxyprogesterone to DHEA, a precursor molecule for testosterone and estrogen production. 2. **Androgen Biosynthesis:** CYP17A1 is involved in the biosynthesis of testosterone and dihydrotestosterone (DHT), which play crucial roles in male reproductive development and function. 3. **Estrogen Biosynthesis:** CYP17A1 also contributes to the biosynthesis of estrogens, including estrone and estradiol, which are essential for female reproductive development and function. 4. **Metabolic Disorders:** Abnormalities in CYP17A1 expression or function have been linked to various metabolic disorders, including congenital adrenal hyperplasia (CAH) and steroidogenesis deficiency. **Clinical Significance:** 1. **Congenital Adrenal Hyperplasia (CAH):** Mutations in the CYP17A1 gene have been identified as a cause of CAH, a group of genetic disorders characterized by impaired steroidogenesis. 2. **Infertility:** Abnormalities in CYP17A1 expression or function have been linked to infertility, including male infertility due to impaired testosterone production. 3. **Cancer:** CYP17A1 has been implicated in the development and progression of certain cancers, including prostate cancer and breast cancer. 4. **Metabolic Disorders:** Abnormalities in CYP17A1 expression or function have been linked to various metabolic disorders, including obesity, insulin resistance, and type 2 diabetes. In conclusion, CYP17A1 is a critical enzyme involved in the biosynthesis and metabolism of steroid hormones. Its dysregulation or abnormalities in expression have been linked to various diseases, including metabolic disorders, infertility, and cancer. Further research is needed to fully understand the role of CYP17A1 in human health and disease.

Genular Protein ID: 2131520065

Symbol: CP17A_HUMAN

Name: 17-alpha-hydroxyprogesterone aldolase

UniProtKB Accession Codes:

P05093 Q5TZV7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 76 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 15 DrugCentral 1 EC 5 EMBL 15 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 16 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 17 PDBsum 17 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 40 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 3025870

Title: Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.

PubMed ID: 3025870

DOI: 10.1073/pnas.84.2.407

PubMed ID: 3500022

Title: Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21.

PubMed ID: 3500022

DOI: 10.1089/dna.1987.6.439

PubMed ID: 3274893

Title: Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency.

PubMed ID: 3274893

DOI: 10.1210/mend-1-5-348

PubMed ID: 1964490

Title: Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells.

PubMed ID: 1964490

DOI: 10.1210/mend-4-12-1972

PubMed ID: 2843762

Title: Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.

PubMed ID: 2843762

DOI: 10.1210/mend-2-6-564

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9452426

Title: Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer.

PubMed ID: 9452426

DOI: 10.1074/jbc.273.6.3158

PubMed ID: 27339894

Title: Mechanism of 17alpha,20-Lyase and New Hydroxylation Reactions of Human Cytochrome P450 17A1: 18O LABELING AND OXYGEN SURROGATE EVIDENCE FOR A ROLE OF A PERFERRYL OXYGEN.

PubMed ID: 27339894

DOI: 10.1074/jbc.m116.732966

PubMed ID: 36640554

Title: Hydroxylation and lyase reactions of steroids catalyzed by mouse cytochrome P450 17A1 (Cyp17a1).

PubMed ID: 36640554

DOI: 10.1016/j.jinorgbio.2022.112085

PubMed ID: 10406467

Title: Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.

PubMed ID: 10406467

DOI: 10.1210/mend.13.7.0326

PubMed ID: 22266943

Title: Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001.

PubMed ID: 22266943

DOI: 10.1038/nature10743

PubMed ID: 25301938

Title: Structures of human steroidogenic cytochrome P450 17A1 with substrates.

PubMed ID: 25301938

DOI: 10.1074/jbc.m114.610998

PubMed ID: 2808364

Title: Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 2808364

DOI: 10.1016/s0021-9258(19)84680-x

PubMed ID: 1714904

Title: Missense mutation serine106-->proline causes 17 alpha-hydroxylase deficiency.

PubMed ID: 1714904

DOI: 10.1016/s0021-9258(18)98506-6

PubMed ID: 1515452

Title: Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)-->Cys, Gln(461)-->Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 1515452

DOI: 10.1016/0925-4439(92)90100-2

PubMed ID: 1740503

Title: Compound heterozygous mutations (Arg 239-->Stop, Pro 342-->Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 1740503

DOI: 10.1210/jcem.74.3.1740503

PubMed ID: 8396144

Title: Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 8396144

DOI: 10.1016/s0021-9258(19)36570-6

PubMed ID: 8245018

Title: Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.

PubMed ID: 8245018

DOI: 10.1016/s0021-9258(19)74462-7

PubMed ID: 8345056

Title: Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

PubMed ID: 8345056

DOI: 10.1210/jcem.77.2.8345056

PubMed ID: 8027220

Title: Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

PubMed ID: 8027220

DOI: 10.1210/jcem.79.1.8027220

PubMed ID: 8550762

Title: Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.

PubMed ID: 8550762

DOI: 10.1210/jcem.81.1.8550762

PubMed ID: 10720067

Title: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.

PubMed ID: 10720067

DOI: 10.1210/jcem.85.3.6475

PubMed ID: 11549685

Title: Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.

PubMed ID: 11549685

DOI: 10.1210/jcem.86.9.7812

PubMed ID: 11836339

Title: Combined 17alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.

PubMed ID: 11836339

DOI: 10.1210/jcem.87.2.8271

PubMed ID: 12466376

Title: Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.

PubMed ID: 12466376

DOI: 10.1210/jc.2001-011880

PubMed ID: 14671162

Title: P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.

PubMed ID: 14671162

DOI: 10.1210/jc.2003-030988

PubMed ID: 19793597

Title: Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.

PubMed ID: 19793597

DOI: 10.1016/j.metabol.2009.07.024

PubMed ID: 24498484

Title: Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: first case report from Oman.

PubMed ID: 24498484

DOI: 10.5001/omj.2014.12

PubMed ID: 24140098

Title: A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.

PubMed ID: 24140098

DOI: 10.1016/j.metabol.2013.08.015

PubMed ID: 25650406

Title: Partial deficiency of 17alpha-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.

PubMed ID: 25650406

DOI: 10.1530/eje-14-0834

Sequence Information:

  • Length: 508
  • Mass: 57371
  • Checksum: E5454E9E18F96B0E
  • Sequence:
    • MWELVALLLL TLAYLFWPKR RCPGAKYPKS LLSLPLVGSL PFLPRHGHMH NNFFKLQKKY 
GPIYSVRMGT KTTVIVGHHQ LAKEVLIKKG KDFSGRPQMA TLDIASNNRK GIAFADSGAH 
WQLHRRLAMA TFALFKDGDQ KLEKIICQEI STLCDMLATH NGQSIDISFP VFVAVTNVIS 
LICFNTSYKN GDPELNVIQN YNEGIIDNLS KDSLVDLVPW LKIFPNKTLE KLKSHVKIRN 
DLLNKILENY KEKFRSDSIT NMLDTLMQAK MNSDNGNAGP DQDSELLSDN HILTTIGDIF 
GAGVETTTSV VKWTLAFLLH NPQVKKKLYE EIDQNVGFSR TPTISDRNRL LLLEATIREV 
LRLRPVAPML IPHKANVDSS IGEFAVDKGT EVIINLWALH HNEKEWHQPD QFMPERFLNP 
AGTQLISPSV SYLPFGAGPR SCIGEILARQ ELFLIMAWLL QRFDLEVPDD GQLPSLEGIP 
KVVFLIDSFK VKIKVRQAWR EAQAEGST

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.