{"doi":"10.1016/j.metabol.2004.05.018","title":"Functional characterization of mutant CYP17 genes isolated from a 17α-hydroxylase/17,20-lyase-deficient patient","abstract":null,"journal":"Metabolism","year":2004,"id":590942,"datarank":0.855082343723756,"base_score":2.302585092994046,"endowment":2.302585092994046,"self_citation_contribution":0.3453877639491069,"citation_network_contribution":0.5096945797746492,"self_endowment_contribution":0.3453877639491069,"citer_contribution":0.5096945797746492,"corpus_percentile":null,"corpus_rank":null,"citation_count":9,"citer_count":9,"citers_with_citation_signal":7,"citers_with_endowment":7,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1511930,"name":"Tae Sik Jung","orcid":null,"position":1,"is_corresponding":false},{"id":1511931,"name":"Sook Yong Byun","orcid":null,"position":2,"is_corresponding":false},{"id":1511932,"name":"Young Nam Lee","orcid":null,"position":3,"is_corresponding":false},{"id":1511933,"name":"Kon Ho Lee","orcid":null,"position":4,"is_corresponding":false},{"id":735094,"name":"Deok Ryong Kim","orcid":"0000-0002-3288-8257","position":5,"is_corresponding":false},{"id":1511929,"name":"Jong Ryeal Hahm","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Functional characterization of mutant CYP17 genes isolated from a 17α-hydroxylase/17,20-lyase-deficient patient","abstract":"CYP17 has a dual enzymatic activity that is necessary for steroid hormone biosynthesis. It catalyzes the 17 alpha-hydroxylation of progesterone or pregnenolone and also removes an acetyl moiety of hydroxy-progesterone or hydroxypregnenolone by its 17,20-lyase activity to produce androstenedione or dehydroepiandrosterone (DHEA), respectively. We previously isolated a compound heterozygous mutant of CYP17 from a Korean female patient: 1-base deletion and 1-base transversion mutation at 1 allele and 3-base deletion mutation at the other allele. Here we tested the functional activities of these 2 mutant CYP17 alleles using a transfection analysis in COS-1 cells with radiolabeled substrates and thin layer chromatography. Both mutant CYP17 genes lost not only 17 alpha-hydroxylation activity, but also 17,20-lyase activity in this assay system. This nonfunctional nature of 2 mutant CYP17 genes explains the clinical manifestation of a patient who had 17 alpha-hydroxylase deficiency.","is_dataset_classified":null,"base_score":2.302585092994046,"endowment":2.302585092994046,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"15562394","pmcid":null,"openalex_id":"https://openalex.org/W2071958277","authors":[],"funders":[],"total_grants":0,"fwci":0.2267,"citation_percentile":0.52188897,"influential_citations":0,"citation_trend":[{"year":2013,"count":1},{"year":2016,"count":1},{"year":2020,"count":1},{"year":2024,"count":1},{"year":2026,"count":1}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0026049504002495?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0026049504002495?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.metabol.2004.05.018","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/15562394","host_type":"repository"}],"fields_of_study":["Sexual Differentiation and Disorders","Hormonal and reproductive studies","Hormonal Regulation and Hypertension","Adrenal Hyperplasia, Congenital","Alleles","Animals","COS Cells","Chlorocebus aethiops","Female","Gene Deletion","Gene Expression","Humans","Hydroxylation","Mutagenesis, Site-Directed","Plasmids","Progesterone","RNA, Messenger","Recombinant Proteins","Steroid 17-alpha-Hydroxylase","Transfection","Tritium"],"mesh_terms":["Adrenal Hyperplasia, Congenital","Alleles","Animals","Chlorocebus aethiops","Female","Humans","Hydroxylation","Plasmids","Progesterone","Recombinant Proteins","RNA, Messenger","Steroid 17-alpha-Hydroxylase","Transfection","Tritium","Gene Expression","Mutagenesis, Site-Directed","Gene Deletion","COS Cells"],"keywords":["Pregnenolone","Mutant","Hydroxylation","Transversion","Lyase","Gene","Mutation","CYP17A1","Biology","Chemistry","Biochemistry","Enzyme","Molecular biology","Steroid","Hormone"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-25T13:15:00.347591Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}