LSS

The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms

lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)

Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:7639730, PubMed:26200341).
Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341).

Cholesterol biosynthetic processManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of protein stabilityManual Assertion Based On ExperimentIMP:UniProtKB
Steroid biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Triterpenoid biosynthetic processIEA:InterPro

Endoplasmic reticulum membrane

Cataract 44 (CTRCT44):
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Hypotrichosis 14 (HYPT14):
A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair.
Alopecia-intellectual disability syndrome 4 (APMR4):
An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay.