mutations in the gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis; catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis; involved in resistance to neurodegeneration and oxidative stress in Alzheimer's disease; DIMINUTO/DWARF1 homolog; RefSeq NM_014762 (human); NM_053272 (mouse)
