Pikachurin
From Proteopedia
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== Function == | == Function == | ||
| - | Has a | + | Has a dual function of photoreceptor visual synapse formation and visual perception |
== Disease == | == Disease == | ||
| - | Visual | + | 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. |
Revision as of 21:51, 7 October 2016
Function
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 (February 2011). "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.
