Anti-RPGRIP1 Antibody (CAB7477)
- SKU:
- CAB7477
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Frequently bought together:
Description
| 抗体名: | Anti-RPGRIP1 Antibody |
| 抗体コード: | CAB7477 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | WB |
| 反応性: | Human, Mouse, Rat |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 400-580 of human RPGRIP1 (NP_065099.3). |
| 申し込み: | WB |
| 推奨希釈: | WB 1:500 - 1:2000 |
| 反応性: | Human, Mouse, Rat |
| ポジティブサンプル: | HL-60 |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 400-580 of human RPGRIP1 (NP_065099.3). |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | ELIA EQLQ QQVS QLQD QLDA ELED KRKV LLEL SREK AQNE DLKL EVTN ILQK HKQE VELL QNAA TISQ PPDR QSEP ATHP AVLQ ENTQ IEPS EPKN QEEK KLSQ VLNE LQVS HAET TLEL EKTR DMLI LQRK INVC YQEE LEAM MTKA DNDN RDHK EKLE RLTR LLDL KNNR IKQL EGIL R |
| 遺伝子ID: | 57096 |
| Uniprot: | Q96KN7 |
| セルラーロケーション: | Cell projection, cilium |
| 計算された分子量: | 66kDa/70kDa/74kDa/76kDa/103kDa/146kDa |
| 観察された分子量: | 170kDa |
| 同義語: | RPGRIP1, CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d |
| バックグラウンド: | 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. |
| UniProt Protein Function: | RPGRIP1: Essential for RPGR function and is also required for normal disk morphogenesis. Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6). 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. Defects in RPGRIP1 are the cause of cone-rod dystrophy type 13 (CORD13). An inherited retinal dystrophy 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. Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons. Belongs to the RPGRIP1 family. 6 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Unknown function Chromosomal Location of Human Ortholog: 14q11 Cellular Component: axoneme; photoreceptor connecting cilium Molecular Function:protein binding Biological Process: eye photoreceptor cell development; visual perception; retina development in camera-type eye; response to stimulus Disease: Leber Congenital Amaurosis 6; Cone-rod Dystrophy 13 |
| NCBI Summary: | 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] |
| UniProt Code: | Q96KN7 |
| NCBI GenInfo Identifier: | 296452882 |
| NCBI Gene ID: | 57096 |
| NCBI Accession: | NP_065099.3 |
| UniProt Secondary Accession: | Q96KN7,Q7Z2W6, Q8IXV5, Q96QA8, Q9HB94, Q9HB95, Q9HBK6 Q9NR40, |
| UniProt Related Accession: | Q96KN7 |
| Molecular Weight: | 170kDa |
| NCBI Full Name: | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 |
| NCBI Synonym Full Names: | retinitis pigmentosa GTPase regulator interacting protein 1 |
| NCBI Official Symbol: | RPGRIP1 |
| NCBI Official Synonym Symbols: | LCA6; RGI1; RGRIP; CORD13; RPGRIP; RPGRIP1d |
| NCBI Protein Information: | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; RPGR-interacting protein 1 |
| UniProt Protein Name: | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 |
| Protein Family: | X-linked retinitis pigmentosa GTPase regulator-interacting protein |
| UniProt Gene Name: | RPGRIP1 |
| UniProt Entry Name: | RPGR1_HUMAN |
 | Western blot analysis of extracts of HL-60 cells, using RPGRIP1 antibody (CAB7477) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhanced Kit (RM00021). Exposure time: 30s. |
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