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
Gene: ZFYVE26
Alternate names for this Gene: FYVE-CENT|SPG15
Gene Summary: This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15.
Gene is located in Chromosome: 14
Location in Chromosome : 14q24.1
Description of this Gene: zinc finger FYVE-type containing 26
Type of Gene: protein-coding
rs386834261 in
RDH12;GPHN;ZFYVE26 gene and
Abnormality of the eye
PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
rs104894476 in
RDH12;GPHN;ZFYVE26 gene and
LEBER CONGENITAL AMAUROSIS 13
PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
PMID 24474277 2014 Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
PMID 16269441 2005 Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
PMID 22065924 2011 RDH12 retinopathy: novel mutations and phenotypic description.
PMID 26047050 2015 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
PMID 17389517 2007 The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
rs386834261 in
RDH12;GPHN;ZFYVE26 gene and
Retinal Dystrophies
PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.