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Product Name CYP4V2 Chinese Name 细胞色素P450 4V2抗体 Alias BCD; CP4V2_HUMAN; CYP4AH1; CYP4V 2; CYP4V2; Cytochrome P450 4V2; Cytochrome P450, family 4, subfamily V, polypeptide 2; Retina CYP4V2. Research Area Cell biology immunology Signal transduction The new supersedes the old Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 61kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human CYP4V2: 431-525/525 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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.
SWISS:
Q6ZWL3
Gene ID:
285440
Database links:Entrez Gene: 285440 Human
Entrez Gene: 102294 Mouse
Omim: 608614 Human
SwissProt: Q6ZWL3 Human
SwissProt: Q9DBW0 Mouse
Unigene: 587231 Human
Unigene: 245297 Mouse
Unigene: 201722 Rat
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