Literature associating RPGRIP1L and Johanson-Blizzard syndrome
RPGR-interacting protein 1-like protein; Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left- right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity); Belongs to the RPGRIP1 family.
Synonyms: RPGRIP1L, H3BPF5, H3BPS4, H3BS47, H3BV03 ...