Bilateral Frontoparietal Polymicrogyria - GENETICS

GENETICS

The GPR56 is grouped in the B family of GPCRs. This GPCR group have long N termini characterized by an extracellular “cysteine box” and hydrophilic, potentially mucin-rich. The cysteine box contains four conserved cysteines and two tryptophans arranged in a specific fashion (C-x2-W-x6-16-W-x4-C-x10-22-C-x-C) just before the first transmembrane domain and serves as a cleavage site in some members of this group of G protein–coupled receptors. Although,the molecular and cellular mechanisms of how GPR56 regulates brain development remain largely unknown. These types of receptors play a essential role in biological processes including embryonic development, central nervous system (CNS), immune system, and tumorigenesis.

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