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cytochrome P450 4V2 (CYP4V2)
Function:
- unknown
- may have a role in fatty acid & steroid metabolism
Structure: belongs to the cytochrome P450 family
Compartment: endoplasmic reticulum membrane
Alternative splicing: named isoforms=2
Expression:
- broadly expressed
- detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium & lymphocytes
Pathology:
- defects in CYP4V2 are a cause of Bietti crystalline corneoretinal dystrophy
General
cytochrome P450
Properties
COMPARTMENT: smooth endoplasmic reticulum
MOTIF: membrane region
heme-binding site [cysteine residue]
COFACTOR-BOUND: heme
Database Correlations
OMIM correlations
MORBIDMAP 608614
UniProt Q6ZWL3
Pfam PF00067
Entrez Gene 285440
Kegg hsa:2854
References
- UniProt Q6ZWL3