Cystic fibrosis transmembrane conductance regulator pseudogene 2 (CFTRP2)

Cystic fibrosis transmembrane conductance regulator pseudogene 2 (CFTRP2) is a non-coding genomic sequence that closely resembles the functional CFTR gene but does not produce a functional protein product. It is classified as a pseudogene and is not involved in normal physiology or disease causation. While CFTRP2 itself has no direct biological or pathological function, sequence similarity with the functional CFTR gene can occasionally cause confusion in genetic analyses, such as false positive results in carrier screening or diagnostic workflows for cystic fibrosis[8]. CFTRP2 should not be confused with the main disease-associated target, CFTR, which encodes a chloride channel critical for epithelial ion transport and is the basis for diseases such as cystic fibrosis[1][3][5][8].

Other names

CFTRP2 (primary)cystic fibrosis transmembrane conductance regulator pseudogene 2