RPGRIP1 Antibody

說明書

中文名稱：

RPGRIP1兔多克隆抗體
貨號：

CSB-PA850326ESR2HU
規格：

￥440
圖片：
Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA850326ESR2HU at dilution of 1:100

Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA850326ESR2HU at dilution of 1:100
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) RPGRIP1 Polyclonal antibody
Uniprot No.：

Q96KN7
基因名：

RPGRIP1
別名：

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

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 protein (400-580AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
產品提供形式：

Liquid
應用范圍：

ELISA, IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:20-1:200

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
1. Gene capture sequencing results found three probands carrying mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA (Leber's congenital amaurosis). By further clinical analysis, two probands were confirmed to be retinitis pigmentosa (RP) patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. PMID: 28456785
2. Neurodevelopmental delay and brain atrophy in the CT scan were reported. Genomic sequencing identified a novel homozygous deletion, c.[420delG], in RPGRIP1. This mutation was not detected in 80 ethnically matched controls and has not been reported elsewhere. CONCLUSIONS: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and. PMID: 27116508
3. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review] PMID: 25414380
4. Although the present patients did not show sufficient clinical findings as Leber congenital amaurosis (LCA), PCR findings and direct sequencing following microarray analysis confirmed that they were LCA. PMID: 25096270
5. Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations. PMID: 24997176
6. We report a novel RPGRIP1 mutation causing LCA in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far. PMID: 23278760
7. Recessive RPGRIP1 mutations cause a severe cone-rod Leber congenital amaurosis phenotype, often with poor or no fixation and an oculodigital sign. In the first decade of life retinal changes are clinically most evident in the periphery. PMID: 23505306
8. RPGRIP1 in human and in canine model involves protein network and photoreceptor cilia. PMID: 22183349
9. Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly. PMID: 21685204
10. heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma PMID: 21224891
11. Studies highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases. PMID: 20090203
12. RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors. PMID: 12140192
13. RPGR ORF15 isoform co-localizes with RPGRIP1 at cenrioles and basal bodies and interacts with nucleophosmin. PMID: 15772089
14. RPGRIP1-mediated nucleocytoplasmic crosstalk emerges with implications in the molecular pathogenesis of retinopathies PMID: 15800011
15. AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa PMID: 16272259
16. RPGRIP1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina PMID: 16339905
17. The RPGRIP1-Lebers congenital amaurosis patient has treatment potential for a gene replacement strategy if targeted to central, but not pericentral or peripheral, retina. PMID: 17306875
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相關疾病：

Leber congenital amaurosis 6 (LCA6); Cone-rod dystrophy 13 (CORD13)
亞細胞定位：

Cell projection, cilium.
蛋白家族：

RPGRIP1 family
組織特異性：

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.
數據庫鏈接：

HGNC: 13436

OMIM: 605446

KEGG: hsa:57096

STRING: 9606.ENSP00000382895

UniGene: Hs.126035

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