DISEASES

Disease-gene associations mined from literature

Literature associating SNTB2 and mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

SNTB2 [ENSP00000338191]

Syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2); Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN; Belongs to the syntrophin family.

Synonyms:  SNTB2,  SNTB2p,  hSNTB2,  A0A024R732,  Q13425 ...

Linkouts:  STRING  Pharos  UniProt  OMIM