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Literature summary for 1.1.1.300 extracted from

  • Janecke, A.R.; Thompson, D.A.; Utermann, G.; Becker, C.; Hubner, C.A.; Schmid, E.; McHenry, C.L.; Nair, A.R.; Ruschendorf, F.; Heckenlively, J.; Wissinger, B.; Nurnberg, P.; Gal, A.
    Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy (2004), Nat. Genet., 36, 850-854.
    View publication on PubMed
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Application

Application Comment Organism
medicine enzyme is associated with retinal dystrophy and encodes an enzyme with unique, nonredundant role in the photoreceptor cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
Q189X mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy Homo sapiens
R62X mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy Homo sapiens
T49M mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy Homo sapiens
Y226C mutation present in all individuals affected by autosomal recessive childhood-onset severe retinal dystrophy from three Austrian kindreds, enzyme expressed in COS-7 cells shows diminished activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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 Austrian kindreds with individuals affected by autosomal recessive childhood-onset severe retinal dystrophy
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