Signal peptide peptidase-like 2A pseudogene

Signal peptide peptidase-like 2A pseudogene (ENSG00000259531) is a nonfunctional genomic sequence highly similar to the functional Signal peptide peptidase-like 2A (SPPL2A) gene. Pseudogenes resemble their parent genes but are typically unable to encode functional proteins, lacking necessary regulatory elements or containing mutations such as frameshifts or premature stop codons. This pseudogene does not have known biological function, does not participate in disease processes, is not a drug target, and should not be confused with the functional SPPL2A gene, which encodes an intramembrane aspartyl protease involved in immune functions[2][8]. SPPL2A is a functional gene in the same family, encodes a protein involved in immune regulation, and is a drug development target, but ENSG00000259531 only refers to its pseudogene[1][9]. Pseudogenes can complicate genetic and molecular studies by being mistakenly annotated as functional genes or by cross-reactivity in certain assays[2][5].

Other names

SPPL2A pseudogeneSPPL2A-PSSignal peptide peptidase-like 2A processed pseudogene