| CYP4V2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CYP4V2 , BCD, CYP4AH1, cytochrome P450 family 4 subfamily V member 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608614 MGI: 2142763 HomoloGene: 133054 GeneCards: CYP4V2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| EC number | 1.14.14.79 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene. [5] [6]
Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas. [7] [8]
Keratin 12 is a protein that in humans is encoded by the KRT12 gene.
Bietti's crystalline dystrophy (BCD) is a rare autosomal recessive eye disease named after G. B. Bietti.
Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.
PRP31 pre-mRNA processing factor 31 homolog , also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.
Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.
Protein XRP2 is a protein that in humans is encoded by the RP2 gene.
11-cis retinol dehydrogenase is an enzyme that in humans is encoded by the RDH5 gene.
Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.
EGF-containing fibulin-like extracellular matrix protein 1 is a protein that in humans is encoded by the EFEMP1 gene.
Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.
Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.
Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.
Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.
Membrane frizzled-related protein is a protein that in humans is encoded by the MFRP gene.
Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.
Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Retinal degeneration is a retinopathy which consists in the deterioration of the retina caused by the progressive death of its cells. There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P., or disease. These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision. Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example.
Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part of the central retina (macula), the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality. "Occult" refers to the degradation in the fundus being difficult to discern. The disorder is called "dystrophy" instead of "degradation" to distinguish its genetic origin from other causes, such as age. OMD was first reported by Y. Miyake et al. in 1989.
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