Disease-gene associations mined from literature

Literature associating SPECC1L and Baraitser-Winter syndrome

SPECC1L [ENSP00000325785]

Sperm antigen with calponin homology and coiled-coil domains 1-like; Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration; Belongs to the cytospin-A family.

Synonyms:  SPECC1L,  SPECC1Lp,  hSPECC1L,  C9JLY8,  Q69YQ0 ...

Linkouts:  STRING  Pharos  UniProt