Ontology highlight
ABSTRACT:
SUBMITTER: Murga-Zamalloa CA
PROVIDER: S-EPMC3464916 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Murga-Zamalloa Carlos A CA Swaroop Anand A Khanna Hemant H
Journal of genetics 20091201 4
Dysfunction of primary cilia due to mutations in cilia-centrosomal proteins is associated with pleiotropic disorders. The primary (or sensory) cilium of photoreceptors mediates polarized trafficking of proteins for efficient phototransduction. Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein mutated in >70% of X-linked RP cases and 10%-20% of simplex RP males. Accumulating evidence indicates that RPGR may facilitate the orchestration of multiple ciliary protein complex ...[more]