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Article

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

Human molecular genetics - 1 Jul 2003

Krakowiak Patrycja A, Wassif Christopher A, Kratz Lisa, Cozma Diana, Kovárová Martina, Harris Ginny, Grinberg Alexander, Yang Yinzi, Hunter Alasdair G W, Tsokos Maria, Kelley Richard I, Porter Forbes D

Abstract excerpt

Lathosterol 5-desaturase catalyzes the conversion of lathosterol to 7-dehydrocholesterol in the next to last step of cholesterol synthesis. Inborn errors of cholesterol synthesis underlie a group of human malformation syndromes including Smith-Lemli-Opitz syndrome, desmosterolosis, CHILD syndrome, CDPX2 and lathosterolosis. We disrupted the lathosterol 5-desaturase gene (Sc5d ) in order to further our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12812989
DOI: 10.1093/hmg/ddg172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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