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
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