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Collagen type VI alpha 4 pseudogene 2 (COL6A4P2) is a transcribed pseudogene located on human chromosome 3, representing the 3' end of a presumed ortholog to the mouse Col6a4 gene that encodes collagen VI alpha 4 chain. In humans, the COL6A4 gene is disrupted due to a chromosomal rearrangement, resulting in two separate pseudogenes, COL6A4P1 (5' end) and COL6A4P2 (3' end). This disruption means that humans do not produce a functional collagen type VI alpha 4 chain protein; thus, these pseudogenes lack biological function and clinical relevance as drug or biomarker targets. COL6A4P2 is frequently listed in genomic databases because it is transcribed, but it is not functionally relevant in humans. The proper functional collagen VI alpha chains in humans are encoded by COL6A1, COL6A2, and COL6A3.
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