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:
Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12). May have a role in fatty acid and steroid metabolism in the eye.
Subcellular Location:
Endoplasmic reticulum membrane.
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: 28588 Human
Entrez Gene: 102294 Mouse
Entrez Gene: 266761 Rat
Omim: 608614 Human
SwissProt: Q6ZWL3 Human
SwissProt: Q9DBW0 Mouse
SwissProt: A2RRT9 Rat
Unigene: 587231 Human
Unigene: 245297 Mouse
Unigene: 201722 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
