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Highest antigen sequence indentity to the following orthologs: Mouse (99%), Rat (99%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-51993. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: RING finger and SPRY domain-containing protein 1; unnamed protein product
基因别名: KIAA1972; RSPRY1; SEMDFA; UNQ328/PRO444
UniProt ID: (Human) Q96DX4
Entrez Gene ID: (Human) 89970