Ontology highlight
ABSTRACT:
SUBMITTER: Wada Y
PROVIDER: S-EPMC7062289 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Wada Yoichi Y Kikuchi Atsuo A Kaga Akimune A Shimizu Naoki N Ito Junya J Onuma Ryo R Fujishima Fumiyoshi F Totsune Eriko E Sato Ryo R Niihori Tetsuya T Shirota Matsuyuki M Funayama Ryo R Sato Kota K Nakazawa Toru T Nakayama Keiko K Aoki Yoko Y Aiba Setsuya S Nakagawa Kiyotaka K Kure Shigeo S
PLoS genetics 20200226 2
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis pathway. Biallelic mutations in LSS have been reported in families with congenital cataracts and, very recently, have been reported in cases of hypotrichosis. However, it remains to be clarified whether these phenotypes are caused by LSS enzymatic ...[more]