SLC22A5 gene encodes a plasma integral membrane protein called solute carrier family 22 member 5 or OCTN2 mainly expressed in kidney, skeletal muscles, and heart. OCTN2 is a plasma integral membrane protein involved in cellular carnitine uptake and transport of organic cations. Mutations in the SLC22A5 gene is associated with systemic primary carnitine deficiency and visceral steatosis.