Chromosome 1 open reading frame 226 (C1orf226)

Chromosome 1 open reading frame 226 (C1orf226) encodes a protein of currently unknown function and is classified as an uncharacterized protein-coding gene. It is mapped to human chromosome 1 and has two known protein-coding transcript variants. C1orf226 has been associated, through genomic studies, with rare disease contexts, including phosphoglycerate dehydrogenase deficiency and nephrotic syndrome, but evidence for a direct causal role remains limited. In neurological studies, it is among a small group of genes whose regulation appears modified in response to TDP-43 knockdown, suggesting indirect or downstream roles in neurodegenerative conditions such as amyotrophic lateral sclerosis, though no direct function or therapeutic relevance has been established. There are no data supporting its classification as a therapeutic target, receptor, or enzyme. Currently, C1orf226 remains a gene of unknown function, requiring further research for full biological and clinical characterization.

Other names

FLJ13137CA226 proteinUncharacterized protein C1orf226C1orf226 homolog (noted for chromosome 3 homolog)