Leber Congenital Amaurosis

Useful Compounds

All-Trans Retinal from Sigma
Produced from Rhodopsin upon exposure to light - is toxic

All-Trans Retinol from Sigma
Formed from All-Trans Retinal by retinal dehydrogenases like RDH12

Cell Line for Screening ARPE-19 from ATCC

Known LCA Genes

1) Centrosomal Protein, 290kDa (CEP290)

2) Guanylate Cyclase 2D (GUCY2D)

3) Crumbs Homolog 1 Precursor (CRB1)

4) Inosine Monophosphate Dehydrogenase 1 (IMPDH1)

5) Retinal Pigment Epithelium 65 (RPE65)

6) Aryl Hydrocarbon-Interacting Protein-Like 1 (AIPL1)

7) Retinitis Pigmentosa GTPase Regulator (RPGRIP1)

8) Retinol Dehydrogenase 12 (RDH12)

9) Leber Congenital Amaurosis 5 (LCA5)

10) Cone-Rod Homeobox Protein (CRX)

11) Tubby Like Protein 1 (TULP1)

12) MER Receptor Tyrosine Kinase Precursor (MERTK)

13) Lecithin Retinol Acyltransferase (LRAT)

14) Retinal Degeneration 3 (RD3)

15) Spermatogenesis-Associated Protein 7 (SPATA7)

16) Leber Congenital Amaurosis 9 (LCA9)

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      • Visual Representations of the Visual Cycle
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Tuesday, June 1, 2010

Visual Representations of the Visual Cycle





Posted by The Petri Dish at 12:28 PM No comments:
Labels: RDH12, RPE65, Visual Cycle
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