Chromosome 19 open reading frame 44 (C19orf44)

Chromosome 19 open reading frame 44 (C19orf44) is a poorly characterized, protein-coding gene in humans located at 19p13.11[1][3]. The gene encodes a 657-amino acid protein with a highly conserved domain of unknown function (DUF) and exhibits several predicted post-translational modifications, including phosphorylation and SUMOylation[1][2]. C19orf44 is most highly expressed in the testis and ovary but is also detectable in the retina, thyroid, and parathyroid[1][2][6]. Its expression is ubiquitous but generally low in most tissues, with modest expression in both fetal and adult retina, suggesting a role in retinal physiology[2][6]. Recent clinical genetic studies have shown that bi-allelic loss-of-function mutations in C19orf44 are causatively associated with late-onset, progressive retinal dystrophies resembling Stargardt disease, characterized by macular degeneration and vision loss over time[2]. Although C19orf44 is not a known therapeutic target or receptor, and its precise biological functions remain undetermined, the presence of a SUMOylation domain hints at potential roles in critical cellular processes. Functional studies to further elucidate its role are ongoing. There are no known drugs, biomarkers, or reported safety concerns directly associated with C19orf44 at this time[2][7].

Other names

C19orf44LOC84167CS044_HUMAN