Sushi repeat-containing protein SRPX2 (SRPX2, SRPUL)
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Function
- role in the perisylvian region, critical for language & cognitive development
Structure
- contains 1 HYR domain
- contains 3 Sushi (CCP/SCR) domains
Compartment
Pathology
- defects in SRPX2 are a cause of bilateral perisylvian polymicrogyria
- defects in SRPX2 are a cause of X-linked rolandic epilepsy with speech dyspraxia & mental retardation