Molecular Characteristics

LSS encodes lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase; OSC or LSS; EC which is highly conserved across species. It plays a key role in the sterol biosynthesis pathway by catalyzing the conversion (cyclization) of (S)-2,3-oxidosqualene to lanosterol, the first sterol of this pathway.

Affected individuals are carrying homozygous or compound heterozygous pathogenic variants in LSS. No cases are carrying biallelic variants predicting a total silencing of the protein synthesis suggesting that complete absence of lanosterol synthase activity would be lethal.

All pathogenic variant published to date are listed in the table 1 of the following publication: Murata M et al (2021), PMID: 33155697.