CYP2U1

CYP2U1 is a gene that encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 4.

Function

The CYP2U1 gene provides instructions for making an enzyme that is found in many parts of the body, including the brain, spinal cord (central nervous system), and liver. This enzyme, called CYP2U1, is involved in the process of breaking down (metabolizing) fatty acids, which are a major source of energy for the body. The CYP2U1 enzyme is also thought to play a role in the metabolism of certain drugs.

Clinical significance

Mutations in the CYP2U1 gene have been associated with a rare neurological disorder called SPG56, or hereditary spastic paraplegia type 56. This condition is characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia), which can make walking difficult or impossible. Other symptoms can include intellectual disability and problems with speech (dysarthria).

Genetics

The CYP2U1 gene is located on the short (p) arm of chromosome 4 at position 12. More precisely, the CYP2U1 gene is located from base pair 49,530,948 to base pair 49,556,678 on chromosome 4.

See also

• Cytochrome P450
• SPG56
• Hereditary spastic paraplegia

External links

• CYP2U1 at the Genetics Home Reference
• CYP2U1 at the National Center for Biotechnology Information

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