The human CYP4V2 gene comprises 11 exons and it encodes cytochrome P450 4V2, a protein which is homologous to members of the CYP450 family 4. As seen in the CYP450 superfamily members, CYP4V2 protein within the CYP450 family 4 is also characterised by a globular structural domain, which consists of 18 helices and beta structural segments. CYP4V2 protein is widely expressed in the heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, and lymphocytes, with its highest expression in the retina. Although termed ‘orphan’ due to its unknown substrate specificities, CYP4V2 is considered to be associated with fatty acid and steroid metabolism in the eye.

Mutations in CYP4V2 gene are linked to Bietti Crystalline Corneoretinal Dystrophy and localized osteosarcoma.