CFTR pseudogene 1 (CFTRP1)

CFTR pseudogene 1 (CFTRP1, dJ760C5.1) is a duplicated, non-functional segment of the human genome that resembles the protein-coding CFTR gene but does not encode functional protein or participate in known biological processes or diseases. It is classified as a pseudogene, meaning it lacks a biological function due to mutations or sequence divergence that prevent translation into a functional protein[1][3][4]. Pseudogenes such as CFTRP1 can confound molecular diagnostic tests for cystic fibrosis, as some CFTR mutations (e.g., c.1364C>A, p.A455E) may reside in the pseudogene rather than the active gene, leading to false carrier status or ambiguous screening results[4]. CFTRP1 is not considered a therapeutic target, receptor, enzyme, transporter, or biomarker, and has no known drug interactions or safety concerns. CFTRP1 is referenced in literature primarily in the context of genetic testing complications for CFTR mutation carriers, and its identification is important only in screening methodologies, not as a biological target[4]. False carrier or disease status may arise when mutations are misattributed to the functional CFTR gene, underscoring the need for high-specificity methods in genetic testing[4]. The canonical "CFTR" gene (not the pseudogene) encodes a chloride channel protein and is a major therapeutic target for cystic fibrosis[1][3][5], but CFTRP1 does not share these functional properties.

Other names

dJ760C5.1CFTRP1