※ PTMD 2.0 database Online Browse Options
Browse result for Leber congenital amaurosis
※ introduction Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life.
It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century. It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber.
One form of LCA was successfully treated with gene therapy in 2008.
Reference
Wiki: Leber congenital amaurosis
Reference
Wiki: Leber congenital amaurosis
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD02505 | O15078 | 80184 | CEP290 | Centrosomal protein of 290 kDa | Homo sapiens |
| PTMD04452 | P20839 | 3614 | IMPDH1 | Inosine-5'-monophosphate dehydrogenase 1 | Homo sapiens |
| PTMD05924 | P68371 | 10383 | TUBB4B | Tubulin beta-4B chain | Homo sapiens |
| PTMD06008 | P82279 | 23418 | CRB1 | Protein crumbs homolog 1 | Homo sapiens |
| PTMD06172 | Q02846 | 3000 | GUCY2D | Retinal guanylyl cyclase 1 | Homo sapiens |
| PTMD07090 | Q16518 | 6121 | RPE65 | Retinoid isomerohydrolase | Homo sapiens |
| PTMD08142 | Q6KF10 | 39225 | GDF6 | Growth/differentiation factor 6 | Homo sapiens |
| PTMD09067 | Q86VQ0 | 16769 | LCA5 | Lebercilin | Homo sapiens |
| PTMD11440 | Q96KN7 | 57096 | RPGRIP1 | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 | Homo sapiens |
| PTMD11592 | Q96NR8 | 14522 | RDH12 | Retinol dehydrogenase 12 | Homo sapiens |
| PTMD13027 | Q9HAN9 | 64802 | NMNAT1 | Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 | Homo sapiens |
| PTMD13800 | Q9NZN9 | 23746 | AIPL1 | Aryl-hydrocarbon-interacting protein-like 1 | Homo sapiens |
