| 简介 | This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
Diseases associated with RPGRIP1 include Leber Congenital Amaurosis 6 and Cone-Rod Dystrophy 13. Among its related pathways is Ciliopathies. An important paralog of this gene is RPGRIP1L.
May function as scaffolding protein.
Required for normal location of RPGR at the connecting cilium of photoreceptor cells.
Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.
Cell projection, cilium {ECO:0000269 PubMed:21685204}3
Note: Situated between the axonemal microtubules and the plasma membrane (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity). Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity) {ECO:0000250 UniProtKB:Q9EPQ2}
Quaternary structure:
Forms homodimers and elongated homopolymers (By similarity).
Interacts with RPGR (PubMed:10958647, 10958648, 24981858).
Interacts with NPHP4 (PubMed:16339905, 21224891).
Interacts with NEK4 (PubMed:21685204).
Interacts with SPATA7 (PubMed:25398945).
Interacts with CEP290/NPHP6; mediating the association between RPGR and CEP290/NPHP6 (PubMed:20200501). |
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