7-dehydrocholesterol reductase

Protein · UniProt

7-dehydrocholesterol reductase

Gene

DHCR7

Organism

Homo sapiens (Human)

Length

475 aa

Molecular mass

54,489 Da

Evidence

1: Evidence at protein level

Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core (PubMed:25637936, PubMed:38297129, PubMed:38297130, PubMed:9465114, PubMed:9634533). Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol (By similarity). Modulates ferroptosis (a form of regulated cell death driven by iron-dependent lipid perox…

• RECRUITING
  Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol MetabolismEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · NCT05047354
• PHASE2COMPLETED
  Simvastatin Therapy in Smith-Lemli-Opitz SyndromeForbes Porter, M.D. · NCT00064792
• PHASE1/PHASE2COMPLETED
  Cholesterol in ASD: Characterization and TreatmentEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · NCT00965068
• PHASE2UNKNOWN
  Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)University of Colorado, Denver · NCT01773278
• PHASE1/PHASE2COMPLETED
  Treatment of the Cholesterol Defect in Smith-Lemli-Opitz SyndromeBoston Children's Hospital · NCT00272844
• WITHDRAWN
  A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz SyndromeEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · NCT01413425

via ClinicalTrials.gov

Wikidata facts

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protein

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