Collagen type VI alpha 4 pseudogene 1 (COL6A4P1)

Collagen type VI alpha 4 pseudogene 1 (COL6A4P1) is a transcribed pseudogene located on chromosome 3. It represents the 5' end of a presumed human ortholog of the mouse gene encoding collagen VI alpha 4 chain protein, but in humans, the gene is disrupted by a chromosomal break and split into two separate pseudogenes (COL6A4P1 and COL6A4P2), resulting in nonfunctional fragments. No full-length open reading frame corresponding to a functional protein is present, and there is no evidence for translation of a complete protein[1][4][6][10]. Some studies suggest the truncated transcript may have a regulatory function, but its precise biological role remains unclear[1][5]. The gene is not considered a therapeutic target as it does not encode an active receptor, enzyme, or protein product[1][6][10]. There is some evidence of genetic variants in related sequences (DVWA SNPs) being associated with osteoarthritis risk, though the direct involvement of COL6A4P1 itself is not established[7].

Other names

COL6A4PVWA6DIVADVWACOL6A4von Willebrand factor A domain containing 6collagen, type VI, alpha 4collagen, type VI, alpha 4, pseudogene