DISEASES

Disease-gene associations mined from literature

Literature associating PARD3 and neural tube defect

PARD3 [ENSP00000363921]

Atypical PKC isotype-specific-interacting protein; Adapter protein involved in asymmetrical cell division and cell polarization processes. Seems to play a central role in the formation of epithelial tight junctions. Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons; Belongs to the PAR3 family.

Synonyms:  PARD3,  PARD3p,  hPARD3,  B1AP52,  F5GZI3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM