Retinol dehydrogenase 12
The RDH12 encodes an enzyme involved in retinol metabolism. Mutations cause autosomal recessive Leber congenital amaurosis type 13 and retinitis pigmentosa 53.
Genetests:
Related Diseases:
References:
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Benayoun L et al. (2009) Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
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Janecke AR et al. (2004) Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
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Perrault I et al. (2004) Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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Thompson DA et al. (2005) Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
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Fingert JH et al. (2008) Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
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Haeseleer F et al. (2002) Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.
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Orphanet article
Orphanet ID 118250
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NCBI article
NCBI 145226
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9. |
OMIM.ORG article
Omim 608830
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10. |
Wikipedia article
Wikipedia EN (RDH12)
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Update: Aug. 14, 2020