CYP4V2
entrez
285440
canonical
uniprot
Q6ZWL3
canonical
ensembl
ENSG00000145476
resolver
ensp
ENSP00000368079
resolver
ensp
ENSP00000575233
resolver
genesymbol
CYP4V2
resolver
hgnc
HGNC:23198
resolver
uniprot
B7U6W2
resolver
uniprot
Q6ZTM4
resolver
uniprot_entry
CP4V2_HUMAN
resolver
uniprot_sec
B7U6W2
resolver
uniprot_sec
Q6ZTM4
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by N-hydroxy-N'-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC(50) of 38 nM. {ECO:0000269|PubMed:19661213}.
uniprot
proteins
amino_acid_sequence
MAGLWLGLVWQKLLLWGAASALSLAGASLVLSLLQRVASYARKWQQMRPIPTVARAYPLVGHALLMKPDGREFFQQIIEYTEEYRHMPLLKLWVGPVPMVALYNAENVEVILTSSKQIDKSSMYKFLEPWLGLGLLTSTGNKWRSRRKMLTPTFHFTILEDFLDIMNEQANILVKKLEKHINQEAFNCFFYITLCALDIICETAMGKNIGAQSNDDSEYVRAVYRMSEMIFRRIKMPWLWLDLWYLMFKEGWEHKKSLQILHTFTNSVIAERANEMNANEDCRGDGRGSAPSKNKRRAFLDLLLSVTDDEGNRLSHEDIREEVDTFMFEGHDTTAAAINWSLYLLGSNPEVQKKVDHELDDVFGKSDRPATVEDLKKLRYLECVIKETLRLFPSVPLFARSVSEDCEVAGYRVLKGTEAVIIPYALHRDPRYFPNPEEFQPERFFPENAQGRHPYAYVPFSAGPRNCIGQKFAVMEEKTILSCILRHFWIESNQKREELGLEGQLILRPSNGIWIKLKRRNADER
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:15042513, ECO:0000269|PubMed:22772592}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.14.79
uniprot
proteins
ec_number
1.14.14.80
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs (PubMed:22772592). Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16) (PubMed:19661213). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). {ECO:0000269|PubMed:19661213, ECO:0000269|PubMed:22772592}.
uniprot
proteins
mass_dalton
60724
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; fatty acid metabolism. {ECO:0000305|PubMed:19661213, ECO:0000305|PubMed:22772592}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15042513
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19661213
uniprot
proteins
pubmed
22772592
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
525
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22772592}; Single-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 13..33; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins