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: 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

rs104894472 in GPHN;RDH12 gene and LEBER CONGENITAL AMAUROSIS 13 PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

PMID 22065924 2011 RDH12 retinopathy: novel mutations and phenotypic description.

PMID 24474277 2014 Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

PMID 26306921 2015 Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

PMID 19140180 2009 Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

PMID 19956407 2009 Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 26124963 2015 Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.

rs104894475 in GPHN;RDH12 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.