SRPX2 Blocking Peptide

This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and mental retardation. [provided by RefSeq, May 2010]

SRPX2: Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion in cancer cells. Increases the phosphorylation levels of FAK. May have a role in the perisylvian region, critical for language and cognitive development. Defects in SRPX2 are a cause of bilateral perisylvian polymicrogyria (BPP). BPP is the most common form of polymicrogyria, a malformation of the cortex, in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused, gyri separated by shallow sulci. BPP results in mild mental retardation, epilepsy and pseudobulbar palsy, causing difficulties with expressive speech and feeding. Defects in SRPX2 are a cause of rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX). A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and mental retardation. Rolandic occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: Xq22.1

Cellular Component: cell junction; cell surface; cytoplasm; excitatory synapse; extracellular space

Molecular Function: identical protein binding; protein binding; receptor binding

Biological Process: angiogenesis; cell motility involved in cell locomotion; cell-cell adhesion; positive regulation of synaptogenesis; regulation of phosphorylation

Disease: Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-linked