Chromosome 1 open reading frame 52 (C1orf52)

Chromosome 1 open reading frame 52 (C1orf52) is a protein-coding gene located at 1p22.3 in the human genome, encoding a 182-amino acid protein that is highly disordered in structure and contains a single DUF4660 domain of uncharacterized function[2]. The protein is ubiquitously expressed in human tissues and is localized to the nucleus (nucleoplasm), with some enrichment in immune, neural, and hematopoietic tissues[2]. Functional annotations suggest RNA binding activity[1][3], but no specific physiological or pathophysiological roles have been conclusively defined. C1orf52 has no known paralogs in the human genome, and its orthologs are broadly conserved across vertebrates and some invertebrates[2]. Various single nucleotide polymorphisms within the gene have been linked (via GWAS or association studies) to traits including metabolic syndrome, cholesterol levels, body mass index, multiple sclerosis, and epilepsy drug response, although causal mechanisms remain undetermined[2]. There are no known small molecules, approved drugs, or therapeutic interventions directly targeting C1orf52, and it is not considered a canonical therapeutic target in current biomedical practice[1][2][3].

Other names

C1orf52Chromosome 1 open reading frame 52GM117gm117FLJ44982UPF0690 protein C1orf52BCL10-associated gene proteinBAG

Not applicable, as there are no drugs targeting C1orf52.