Cholesta-7,24-dien-3beta-ol is desaturated to form cholesta-5,7,24-trien-3beta-ol

Stable Identifier
R-HSA-195664
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
cholesta-7,24-dien-3beta-ol + NADPH + H+ + O2 => cholesta-5,7,24-trien-3beta-ol + NADP+ + 2 H2O
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Cholesta-7,24-dien-3beta-ol, NADPH + H+, and O2 react to form cholesta-5,7,24-trien-3beta-ol, NADP+, and 2 H2O, catalyzed by SC5D. This reaction takes place in the endoplasmic reticulum. Its biochemical details are inferred from those of the reaction catalyzed by the purified rat protein (Kawata et al. 1985). The role of human SC5D in catalyzing this reaction in vivo is established from studies of patients in whom the enzyme is defective (Brunetti-Pierri et al. 2002; Krakowiak et al. 2003).

Literature References
PubMed ID Title Journal Year
12812989 Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

Krakowiak, PA, Wassif, CA, Kratz, L, Cozma, D, Kovarova, M, Harris, G, Grinberg, A, Yang, Y, Hunter, AG, Tsokos, M, Kelley, RI, Porter, FD

Hum Mol Genet 2003
12189593 Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

Brunetti-Pierri, N, Corso, G, Rossi, M, Ferrari, P, Balli, F, Rivasi, F, Annunziata, I, Ballabio, A, Dello Russo, A, Andria, G, Parenti, G

Am J Hum Genet 2002
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
C-5 sterol desaturase activity of SC5D [endoplasmic reticulum membrane]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created