Recombinant Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1), Truncated

Uniprot Id

Q96KN7

Target Species

Human

Target Name

RPGRIP1

Target Full Name

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Target Function

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.

Target Involvement

Leber congenital amaurosis 6 (LCA6); Cone-rod dystrophy 13 (CORD13)

Target Subcellular Location

Cell projection, cilium.

Target Protein Families

RPGRIP1 family

Target Tissue Specificity

Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.

Target Synonyms

RPGRIP1; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; RPGR-interacting protein 1

Target Background

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.