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About: Nyctalopin     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Protein, within Data Space : dbpedia.org associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneHumanGeneprotein New Facet based on Instances of this Class

Nyctalopin is a protein located on the surface of photoreceptor-to-ON bipolar cell synapse in the retina. It is composed of 481 amino acids. and is encoded in human by the NYX gene. This gene is found on the chromosome X and has two exons. This protein is a leucine-rich proteoglycan which is expressed in the eye, spleen and brain in mice. Mutations in this gene cause congenital stationary night blindness in humans (CSNB). which is a stable retinal disorder. The consequence of this mutation results in an abnormal night vision. Nyctalopin is critical due to the fact that it generates a depolarizing bipolar cell response due to the mutation on the NYX gene. Most of the time, CSNB are associated to hygh myopia which is the result of a mutation on the same gene. Several mutations can occur on t