Pikachurin
From Proteopedia
Contents |
Introduction
Synapse formation is very important for mammalian CNS to function properly. Information is transferred from photoreceptors present in the eye to bipolar and horizontal cells at the specialized synapse known as ribbon synapse.Pikachurin is an extracellular retinal protein which helps in precise interaction and signal transmission between ribbon synapse and bipolar dendrites.
Function
Pikachurin protein has a dual function of photoreceptor visual synapse formation and visual perception.
Disease
Visual impairments were seen in mice with deleted pikachurin gene. Congenital muscular dystrophies (CMD) such as muscle-eye-brain disease caused by defective glycosylation of α-dystroglycan (α-DG) exhibit defective photoreceptor synaptic function.
References
1) Hu H, Li J, Zhang Z, Yu M . "Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression". Neurosci. Lett. 489 (1): 10–5.
2)http://www.uniprot.org/uniprot/Q63HQ2
3)Sato S1, Omori Y, Katoh K, Kondo M, Kanagawa M, Miyata K, Funabiki K, Koyasu T, Kajimura N, Miyoshi T, Sawai H, Kobayashi K, Tani A, Toda T, Usukura J, Tano Y, Fujikado T, Furukawa T.Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation.Nat Neurosci. 2008 Aug;11(8):923-31. doi: 10.1038/nn.2160. Epub 2008 Jul 20.
