Literature associating RABL2B and Potocki-Lupski syndrome
RABL2B [ENSP00000378958]
Rab-like protein 2B; Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability . Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia .
Synonyms: RABL2B, RABL2Bp, hRABL2B, A0A0S2SW46, A8MXF6 ...