R3H domain-containing protein 1 (R3HDM1)

R3H domain-containing protein 1 (R3HDM1) is a ubiquitously expressed, primarily nuclear protein encoded by the human R3HDM1 gene located on chromosome 2[4][9]. It contains an R3H domain, a conserved motif known to mediate binding to single-stranded nucleic acids, particularly RNA[7][11]. R3HDM1 is functionally annotated as an RNA-binding protein, implicated in the regulation of gene expression through interaction with RNA molecules[1][5][11]. Diseases associated with R3HDM1 variants include centronuclear myopathy with fiber-type disproportion and pulmonary embolism, but evidence for a direct or druggable disease-driving role is limited at this time[5]. There are currently no approved drugs or clinical candidates reported to target R3HDM1, nor is it established as a validated therapeutic target or clinical biomarker.

Other names

R3HDM1KIAA0029R3HDMR3H domain-containing protein 1