background:
This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
Function:
CYP4X1 is 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. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Catalytic activity: RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O.
Subcellular Location:
Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
Tissue Specificity:
Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes.
DISEASE:
Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]: An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the cytochrome P450 family.
Database links:
Entrez Gene: 260293 Human
SwissProt: Q8N118 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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