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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02505O1507880184
CEP290
Centrosomal protein of 290 kDa
Homo sapiens
PTMD04452P208393614
IMPDH1
Inosine-5'-monophosphate dehydrogenase 1
Homo sapiens
PTMD05924P6837110383
TUBB4B
Tubulin beta-4B chain
Homo sapiens
PTMD06008P8227923418
CRB1
Protein crumbs homolog 1
Homo sapiens
PTMD06172Q028463000
GUCY2D
Retinal guanylyl cyclase 1
Homo sapiens
PTMD07090Q165186121
RPE65
Retinoid isomerohydrolase
Homo sapiens
PTMD08142Q6KF1039225
GDF6
Growth/differentiation factor 6
Homo sapiens
PTMD09067Q86VQ016769
LCA5
Lebercilin
Homo sapiens
PTMD11440Q96KN757096
RPGRIP1
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Homo sapiens
PTMD11592Q96NR814522
RDH12
Retinol dehydrogenase 12
Homo sapiens
PTMD13027Q9HAN964802
NMNAT1
Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
Homo sapiens
PTMD13800Q9NZN923746
AIPL1
Aryl-hydrocarbon-interacting protein-like 1
Homo sapiens