ACCÈS RAPIDE AUX LIENS
RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein 1), also known as LCA6, RGI1, RGRIP, CORD13, RPGRIP or RPGRIP1d, is a 1,286 amino acid protein that belongs to the RPGRIP1 family and localizes to the cilium. Expressed in retina, RPGRIP1 colocalizes with SEC16S in the outer segment of rod photoreceptors and cone outer segments. RPGRIP1 forms homodimers and elongated homopolymers, and exists six alternatively spliced isoforms. RPGRIP1 is required for SEC16S function and is essential for normal disk morphogenesis. Mutations in the gene encoding RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6) and cone-rod dystrophy type 13 (CORD13). LCA is considered the most common genetic cause of congenital visual impairment in infants and children. CORD13 is an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination and initial loss of cone photoreceptors followed by rod degeneration.
Informations pour la commande
Nom du produit | Ref. Catalogue | COND. | Prix HT | QTÉ | Favoris | |
Anticorps RPGRIP1 (B-3) | sc-390331 | 200 µg/ml | $316.00 | |||
RPGRIP1 (B-3): m-IgG3 BP-HRP Kit | sc-550477 | 200 µg Ab; 40 µg BP | $354.00 | |||
RPGRIP1 (B-3) peptide neutralisant | sc-390331 P | 100 µg/0.5 ml | $68.00 |