Chromosome 3 open reading frame 70 (C3orf70)

Chromosome 3 open reading frame 70 (C3orf70) is a nuclear, serine-rich protein of 250 amino acids, encoded by the C3orf70 gene located on chromosome 3q27.2 in humans[1]. Its precise molecular function remains unknown; no characterized protein domains or signaling motifs have been identified[1][3]. C3orf70 is non-ubiquitously expressed, with relatively higher expression in the brain, spinal cord, and prostate, and is especially associated with neurological tissues[1][2]. Functional genetic studies, including knockout models in zebrafish, indicate a role in the development and maturation of neurons, affecting the expression of neuronal markers and circadian neurobehavioral processes[3][5]. C3orf70 has also been linked through genetic association studies to educational attainment, major depressive disorder, and insomnia, suggesting it may play a role in neurodevelopmental and neuropsychiatric conditions, but it is not currently recognized as a therapeutic target, and there are no known drug interactions or clinical biomarkers[3][5].

Other names

UPF0524 protein C3orf70AK091454LOC285382