GPR98 Antibody, FITC conjugated

說明書

中文名稱：

GPR98兔多克隆抗體, FITC偶聯
貨號：

CSB-PA23089C0Rb
規格：

￥880
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) GPR98 Polyclonal antibody
Uniprot No.：

Q8WXG9
基因名：

GPR98
別名：

DKFZp761P0710 antibody; FEB 4 antibody; FEB4 antibody; G protein coupled receptor 98 antibody; G-protein coupled receptor 98 antibody; GPR 98 antibody; GPR98 antibody; GPR98_HUMAN antibody; KIAA0686 antibody; MASS 1 antibody; Monogenic audiogenic seizure susceptibility 1 homolog antibody; Monogenic audiogenic seizure susceptibility protein 1 homolog antibody; USH 2B antibody; USH 2C antibody; USH2B antibody; USH2C antibody; Usher syndrome 2C antibody; Usher syndrome type 2C protein antibody; Usher syndrome type-2C protein antibody; Very large G protein coupled receptor antibody; Very large G protein coupled receptor 1 antibody; Very large G-protein coupled receptor 1 antibody; VLGR 1 antibody; VLGR 1b antibody; VLGR1 antibody; VLGR1b antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human G-protein coupled receptor 98 protein (6155-6306AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

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

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
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：

G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism.; Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1.
基因功能參考文獻：
1. Data suggest that the ADGRV1 variation contributes to epilepsy with myoclonic seizures, although the inheritance pattern may be complex in many cases. In patients with 5q14.3 deletion and epilepsy, ADGRV1 haploinsufficiency likely contributes to seizure development. PMID: 29266188
2. we found new causative mutations in heterozygous compound state, one missense and one nonsense mutation in the GPR98 gene in three deaf sibs. The first mutation located in exon7, corresponds to c.1054C > A, which causes a proline to threonine change at position 352 of the protein (p.Pro352Thr). The second mutation located within exon77 is c.16544delT that leads to a stop codon at position 5515of the protein (p.Leu5515*). PMID: 28951997
3. 7 patients clinically classified as having USH2, genetic tests confirmed the USH2 diagnosis in 5 cases. Of these, 4 patients showed mutations in the USH2A gene and 1 patient in the ADGRV1 gene. The mutation of the ADGRV1/GPR98 gene has an extremely rare incidence and is associated with a diagnosis of USH type 2C. PMID: 28653555
4. We identified two novel truncation mutations in GPR98 causing Usher syndrome. PMID: 26432996
5. our results suggest that low expression of VLGR1 is a significant risk factor of epileptic seizures in patients with low-grade glioma PMID: 25511798
6. Our findings also expand the spectrum of GPR98 mutations in USH and demonstrate that the long isoform of GPR98 might carry even more mutations of the GPR98 gene. PMID: 25572244
7. Diagnosis of Usher Syndrome 2 caused by GPR98 mutations in advance of visual defects in the cohort of nonsyndromic HL patients highlights importane of genetic testing in the diagnosis. PMID: 25743181
8. identified an independent Galphai signaling pathway of the VLGR1 beta-subunit and its regulatory mechanisms that may have a role in the development of Usher syndrome PMID: 24962568
9. In Spain, USH2A and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found. PMID: 23441107
10. genetic association studies in postmenopausal Japanese women: Study found association between an SNP in GPR98 (rs10514346) and bone mineral density in this population; data suggest that Gpr98 signaling pathway regulates bone metabolism. PMID: 22419726
11. Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis. PMID: 22147658
12. A nonsense mutation (S2652X) causing a deletion of the C-terminal 126 amino acid residues was identified in one family with febrile and afebrile seizures. PMID: 12402266
13. USH2C and USH2A manifest photoreceptor disease with rod- and cone-mediated visual losses and thinning of the outer nuclear layer. PMID: 15671307
14. GPR98 genes and the phenotypic heterogeneity and particularly the severe ocular affection first observed in one Usher syndrome patient. PMID: 18854872
15. study describes for the first time two male patients with Usher syndrome type 2 with novel GPR98 mutations PMID: 19357117
16. has seven copies of the EPTP repeat, a unifying protein sequence motif of a heterogenous group of proteins linked to epileptic diseases. The EPTP repeat probably forms a beta-propeller structure. PMID: 12217514
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相關疾病：

Usher syndrome 2C (USH2C); Febrile seizures, familial, 4 (FEB4)
亞細胞定位：

Cell membrane; Multi-pass membrane protein. Cell projection, stereocilium membrane. Photoreceptor inner segment.
蛋白家族：

G-protein coupled receptor 2 family, LN-TM7 subfamily
組織特異性：

Expressed at low levels in adult tissues.
數據庫鏈接：

HGNC: 17416

OMIM: 602851

KEGG: hsa:84059

STRING: 9606.ENSP00000384582

UniGene: Hs.591777

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