DISEASES

Disease-gene associations mined from literature

Literature associating PHLDB2 and congenital fibrosis of the extraocular muscles

PHLDB2 [ENSP00000405405]

Pleckstrin homology-like domain, family B, member 2; Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity); Pleckstrin homology domain containing

Synonyms:  PHLDB2,  PHLDB2p,  hPHLDB2,  DKFZP434G227,  E9PDY7 ...

Linkouts:  STRING  Pharos  UniProt