The pard3b gene encodes a scaffolding protein involved in establishing apical-basal polarity, particularly during early embryogenesis and neurogenesis. It localizes to the cortical cytoplasm and membra...[+]

The pard3b gene encodes a scaffolding protein involved in establishing apical-basal polarity, particularly during early embryogenesis and neurogenesis. It localizes to the cortical cytoplasm and membrane, functioning in tight junction assembly and regulation of cell adhesion. Its roles include mediating notochord elongation, neural plate border formation, neural tube closure, epidermal morphogenesis, and patterning of the otic vesicle and pronephros. Expression is observed in the developing brain, spinal cord, sensory organs, and various epithelial tissues. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD