Reactome | SC5D desaturates LTHSOL to 7-dehydroCHOL

SC5D desaturates LTHSOL to 7-dehydroCHOL

Stable Identifier

R-HSA-6807053

Type

Reaction [transition]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane, cytosol

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SC5D desaturates LTHSOL to 7-dehydroCHOL

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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