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Invitrogen
RSPRY1 Polyclonal Antibody
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产品信息
PA5-32048
应用
建议稀释比
已发表文章
产品规格
种属反应
Human
已发表种属
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
Recombinant protein encompassing a sequence within the center region of human RSPRY1. The exact sequence is proprietary.
偶联物
形式
Liquid
浓度
0.99 mg/mL
纯化类型
Antigen affinity chromatography
保存液
0.1M tris glycine, pH 7, with 20% glycerol
内含物
0.01% thimerosal
保存条件
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
运输条件
Ambient (domestic); Wet ice (international)
RRID
产品详细信息
Recommended positive controls: NT2D1, PC-3.
Predicted reactivity: Mouse (97%), Rat (97%), Zebrafish (85%), Xenopus laevis (83%), Chimpanzee (100%), Bovine (97%).
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
靶标信息
The RSPRY1 gene encodes a protein containing both RING and SPRY domains, which are involved in various cellular processes, including signal transduction and protein-protein interactions. It is located on chromosome 16. Biallelic variants in RSPRY1 have been associated with spondyloepimetaphyseal dysplasia, a rare skeletal disorder characterized by short stature, facial dysmorphism, progressive vertebral defects, small epiphyses, cupping and fraying of metaphyses, brachydactyly, and short metatarsals. These phenotypic effects are due to mutations affecting the structure and function of the RSPRY1 protein, which plays a crucial role in skeletal development. The identification of specific missense variants, such as c.1652G>A (p.Cys551Tyr), has provided deeper insights into the molecular pathology of this condition.
⚠WARNING: This product can expose you to chemicals including mercury, which is known to the State of California to cause birth defects or other reproductive harm. For more information go to www.P65Warnings.ca.gov.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
生物信息学
蛋白别名: RING finger and SPRY domain-containing protein 1
基因别名: KIAA1972; RSPRY1; SEMDFA; UNQ328/PRO444
UniProt ID: (Human) Q96DX4
Entrez Gene ID: (Human) 89970
