产品名称
RPGR1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/57096
Human Swissprot No.
Q96KN7
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q96KN7/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/77945
Mouse Swissprot No.
Q9EPQ2
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9EPQ2
免疫原
Synthesized peptide derived from human RPGR1 AA range: 256-306
特异性
This antibody detects endogenous levels of RPGR1 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
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.
细胞定位
Cell projection, cilium . 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). .
功能
disease:Defects in RPGRIP1 are the cause of cone-rod dystrophy type 9 (CORD9) [MIM:608194]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.,disease:Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6) [MIM:605446]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.,function:Essential for RPGR function and is also required for normal disk morphogenesis.,similarity:Belongs to the RPGRIP1 family.,similarity:Contains 1 C2 domain.,subcellular location:Situated between the axonemal microtubules and the plasma membrane.,subunit:Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR.,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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
