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Target intelligence / Profile preview
Retinitis pigmentosa 1-like 1 protein (RP1L1)
- Target
- RP1L1
- Molecular classification
- Other (Doublecortin family; Microtubule-associated protein)
01
Overview
Retinitis pigmentosa 1-like 1 protein (RP1L1) is a large, retina-specific microtubule-associated protein belonging to the doublecortin family, containing two N-terminal doublecortin domains that bind and regulate microtubule polymerization, and two C-terminal repetitive domains rich in glutamic acid and glutamine[1][3][7]. Expression of RP1L1 is restricted to photoreceptor cells, where it is necessary for their proper differentiation and for the organization and morphogenesis of the rod and cone outer segments[3][6][7]. Mutations in the RP1L1 gene cause inherited retinopathies such as occult macular dystrophy (OCMD) and retinitis pigmentosa (RP88)[3][5]. There is currently no evidence for RP1L1 as a direct therapeutic target or for small molecule/drug modulators.
- Other names
- RP1L1DCDC4Bdoublecortin domain containing 4BOCMDRP88retinitis pigmentosa 1 like 1
02
Biological functions
Photoreceptor cell differentiationOrganization of outer segment of rod and cone photoreceptorsRegulation of microtubule polymerization
03
Disease associations
Inherited retinal degenerative diseases (e.g., Occult macular dystrophy, Retinitis pigmentosa 88)Other (Ciliopathy-related retinal disorders)
04
Safety considerations
Mutations can lead to retinal degenerative diseases such as occult macular dystrophy and retinitis pigmentosa, but there are no general therapeutic safety concerns reported, as this is not currently a therapeutic target[3][5][7].
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