Disease-gene associations mined from literature

Literature associating ARL13B and Joubert syndrome 3

ARL13B [ENSP00000377769]

ADP-ribosylation factor-like protein 2-like 1; Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidences are required to confirm these data; Belongs to the small GTPase superfamily. Arf family.

Synonyms:  ARL13B,  ARL13Bp,  hARL13B,  B4DRI8,  C9J887 ...

Linkouts:  STRING  Pharos  UniProt  OMIM