Pikachurin

FunctionFunction

Has a dual function of photoreceptor visual synapse formation and visual perception

DiseaseDisease

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.

ReferencesReferences

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

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Rajesh Pal