Ring finger and SPRY domain-containing protein 1 (RSPRY1)

Ring finger and SPRY domain-containing protein 1 (RSPRY1) is a glycoprotein encoded by the RSPRY1 gene, characterized by the presence of a RING-type zinc finger domain—which is often associated with E3 ubiquitin ligase activity—and a SPRY domain of currently unknown specific function[1][3][5][7]. The physiological function of RSPRY1 is not fully understood, but current evidence links the protein to bone development, and pathogenic mutations cause spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, an autosomal recessive skeletal disorder[5][9]. No drugs are currently known to interact with RSPRY1, nor is it recognized as a validated therapeutic target in disease[1][5][7][9].

Other names

KIAA1972UNQ328/PRO444SEMDFA