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Pikachurin
From Proteopedia
(Difference between revisions)
| Line 1: | Line 1: | ||
| - | ==PIKACHURIN | + | ==PIKACHURIN== |
| - | == Function == | + | == 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. | |
| - | This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes. | ||
| - | </StructureSection> | ||
== References == | == 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. | 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. | ||
2)http://www.uniprot.org/uniprot/Q63HQ2 | 2)http://www.uniprot.org/uniprot/Q63HQ2 | ||
<references/> | <references/> | ||
Revision as of 21:50, 7 October 2016
Contents |
PIKACHURIN
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.
