Disease-gene associations mined from literature

Literature associating LSS and rigid spine muscular dystrophy 1

LSS [ENSP00000380837]

Lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase); Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency; Belongs to the terpene cyclase/mutase family.

Synonyms:  LSS,  C9J315,  P48449,  C9J315p,  hC9J315 ...

Linkouts:  STRING  Pharos  UniProt