Literature summary for 1.1.1.315 extracted from

Gonzalez-Fernandez, F.; Kurz, D.; Bao, Y.; Newman, S.; Conway, B.; Young, J.; Han, D.; Khani, S.
11-cis Retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus (1999), Mol. Vis., 5, XI-XII.

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Application

Application	Comment	Organism
medicine	examination of two unrelated families, each family with two affected members with typical fundus albipunctatus. RDH5 mutations were found in the affected siblings in both families. The proband in one has a homozygotic Gly238Trp missense mutation (GGG to TGG) involving exon 4 and in the other carries compound heterozygotic changes Arg280His (CGC to CAC) and Ala294Pro (GCC to CCC) in exon 5. The disease phenotype is only manifested in family members with two abnormal RDH5 alleles consistent with autosomal recessive inheritance in both pedigrees	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q92781	-	-

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Release 2023.1 (January 2023)