SC5D desaturates LTHSOL to 7-dehydroCHOL

Stable Identifier
Reaction [transition]
Homo sapiens
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SC5D (lathosterol oxidase) associated with the endoplasmic reticulum desaturates LTHSOL (lathosterol) to 7-dehydroCHOL (7-dehydrocholesterol) (Brunetti-Pierri et al. 2002; Kandutsch & Russell 1960; Krakowiek et al. 2003; Mitsche et al. 2015).

Literature References
PubMed ID Title Journal Year
12189593 Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

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

Am J Hum Genet 2002
14404284 Preputial gland tumor sterols. 3. A metabolic pathway from lanosterol to cholesterol

Russell, AE, Kandutsch, AA

J. Biol. Chem. 1960
26114596 Flux analysis of cholesterol biosynthesis in vivo reveals multiple tissue and cell-type specific pathways

Hobbs, HH, Mitsche, MA, Cohen, JC, McDonald, JG

Elife 2015
12812989 Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

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

Hum Mol Genet 2003
Catalyst Activity

C-5 sterol desaturase activity of SC5D [endoplasmic reticulum membrane]

Orthologous Events
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