Gene: RDH12
Alternate names for this Gene: LCA13|RP53|SDR7C2
Gene Summary: The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53.
Gene is located in Chromosome: 14
Location in Chromosome : 14q24.1
Description of this Gene: retinol dehydrogenase 12
Type of Gene: protein-coding
Gene: GPHN
Alternate names for this Gene: GEPH|GPH|GPHRYN|HKPX1|MOCODC
Gene Summary: This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known.
Gene is located in Chromosome: 14
Location in Chromosome : 14q23.3-q24.1
Description of this Gene: gephyrin
Type of Gene: protein-coding
rs104894471 in
RDH12;GPHN gene and
LEBER CONGENITAL AMAUROSIS 13
PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
PMID 29186038 2017 Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
PMID 26355662 2016 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
PMID 17389517 2007 The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
PMID 17964524 2007 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
rs104894474 in
RDH12;GPHN gene and
Retinitis Pigmentosa
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.