Enables C-8 sterol isomerase activity. Involved in ergosterol biosynthetic process. Located in endoplasmic reticulum. Used to study amyotrophic lateral sclerosis type 16. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 16 and autosomal recessive distal hereditary motor neuronopathy 2. Orthologous to human SIGMAR1 (sigma non-opioid intracellular receptor 1).
SGD Description
C-8 sterol isomerase; catalyzes isomerization of delta-8 double bond to delta-7 position at an intermediate step in ergosterol biosynthesis; transcriptionally down-regulated when ergosterol is in excess; mutation is functionally complemented by human EBP