| Primary Identifier | IPR031136 | Type | Family |
| Short Name | RPGRIP1L |
| description | The human RPGRIP1L gene is one of the causal genes in Meckel and Joubert type B syndromes, two autosomal-recessive multisystem ciliopathies []. RPGRIP1L (also called MKS5, NPHP-8, and for the mouse gene, Ftm, Fantom) is required from developmental processes such as the establishment of left-right asymmetry and patterning of the neural tube and the limbs [], and ventricular septal development []. The protein is mainly found at the ciliary transition zone, where it forms a complex with nephrocystin-1 and nephrocystin-4 [, ]. RPGRIP1L is essential for hair follicle morphogenesis []and for planar cell polarity In the mouse cochlea and in the zebrafish floor plate []. |
