DISEASES

Disease-gene associations mined from literature

Literature associating RABL2A and Potocki-Lupski syndrome

RABL2A [ENSP00000376872]

RAB, member of RAS oncogene family-like 2A; Plays an essential role in male fertility, sperm intra- flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail; RAB like GTPases

Synonyms:  RABL2A,  RABL2Ap,  hRABL2A,  B7ZBD4,  B7ZBD5 ...

Linkouts:  STRING  Pharos  UniProt