Pikachurin
From Proteopedia
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==PIKACHURIN GENE== | ==PIKACHURIN GENE== | ||
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== Function ==Has a Dual function of photoreceptor visual synapse formation and visual perception | == Function ==Has a Dual function of photoreceptor visual synapse formation and visual perception | ||
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</StructureSection> | </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. | ||
| + | 2)http://www.uniprot.org/uniprot/Q63HQ2 | ||
<references/> | <references/> | ||
Revision as of 21:48, 7 October 2016
Contents |
PIKACHURIN GENE
== 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.
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Structural highlights
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</StructureSection>
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.
