Ceruloplasmin and hephaestin-like 1 pseudogene (CPHL1P)

Ceruloplasmin and hephaestin-like 1 pseudogene (CPHL1P) is a processed pseudogene located in the human genome[1][3][4]. Pseudogenes are genetic sequences resembling functional genes but are non-coding due to evolutionary mutations or incomplete sequences. CPHL1P shows high sequence homology to the functional gene for ceruloplasmin, an important multicopper oxidase involved in copper and iron metabolism, and to the gene for hephaestin, which also encodes a multicopper oxidase[3][4][2][5][6]. However, because of deletions, frameshift mutations, and lack of transcription, CPHL1P does not produce a functional protein product[3]. Consequently, it is not relevant as a direct therapeutic, diagnostic, or prognostic target and is primarily of interest in evolutionary and genomic studies. Its parental genes, CP (ceruloplasmin) and HEPH (hephaestin), do play critical roles in diseases of iron and copper metabolism[2][5][6][8], but this function does not extend to CPHL1P itself.

Other names

CPHL1