Disease-gene associations mined from literature

Literature associating SH3PXD2B and ametropic amblyopia

SH3PXD2B [ENSP00000309714]

Tyrosine kinase substrate with four SH3 domains; Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity).

Synonyms:  SH3PXD2B,  A1X283,  G3V144,  A1X283p,  hA1X283 ...

Linkouts:  STRING  Pharos  UniProt  OMIM