| Primary Identifier | IPR040163 | Type | Family |
| Short Name | RP1/RP1L1/DCX |
| description | This entry includes oxygen-regulated protein 1 (RP1), retinitis pigmentosa 1-like 1 (RP1L1) and neuronal migration protein doublecortin (DCX).Oxygen-regulated protein 1 (also known as retinitis pigmentosa 1, RP1) is a photoreceptor-specific, microtubule-associated ciliary protein containing the doublecortin (DCX) domain. Together with RP1L1, they play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors [].Mutations in the RP1 gene account for 5-10% of cases of autosomal dominant retinitis pigmentosa, a disease characterised by late-onset night blindness, loss of peripheral vision, and diminished or absent electroretinogram (ERG) responses [].Mutations in the RP1L1 gene cause occult macular dystrophy (OCMD), an inherited macular dystrophy characterised by progressive loss of macular function but normal ophthalmoscopic appearance []. Neuronal migration protein doublecortin (DCX; also known as Lissencephalin-X) seems to be required for the initial steps of neuronal dispersion and cortex lamination during cerebral cortex development []. This protein may act by competing with the putative neuronal protein kinase DCAMKL1 in binding to a target protein, and thereby participate in a signalling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. It may also be involved with LIS-1 in an overlapping, but distinct, signalling pathways that promotes neuronal migration. Defects in neuronal migration protein doublecortin are the cause of lissencephaly X-linked type 1 (LISX1), a classic lissencephaly characterised by mental retardation and seizures that are more severe in male patients [, ]. |
