DISEASES

Disease-gene associations mined from literature

Literature associating PDLIM5 and lissencephaly 3

PDLIM5 [ENSP00000480359]

Enigma-like PDZ and LIM domains protein; May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity); LIM domain containing

Synonyms:  PDLIM5,  PDLIM5p,  hPDLIM5,  D6RAA1,  D6RGG6 ...

Linkouts:  STRING  Pharos  UniProt