Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: RING finger and SPRY domain-containing protein 1
Gene Aliases: KIAA1972; RSPRY1; SEMDFA; UNQ328/PRO444
UniProt ID: (Human) Q96DX4
Entrez Gene ID: (Human) 89970
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