Located on Chromosome 4, this mutation impacts CYP2U1, CYP2U1-AS1 (cytochrome P450 family 2 subfamily U member 1| CYP2U1 and SGMS2 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Hereditary spastic paraplegia 56