TMEM231 pseudogene 1 (TMEM231P1)

TMEM231 pseudogene 1 is a genomic locus related to the TMEM231 gene, but harbors sequence variants and does not encode a functional protein. It is situated downstream (centromeric) from the functional TMEM231 gene and can confound molecular genetic analyses due to gene conversion events. Gene conversion between TMEM231 and its pseudogene complicates genetic diagnosis of disorders like Meckel-Gruber syndrome and Joubert syndrome by causing sequence misalignment and false variant calls in next-generation sequencing. The pseudogene does not have known protein product or direct biological function, and it is not considered a drug target or biomarker. It is only relevant as a technical artifact in genetic testing and research[1][2]. Critical clarification: TMEM231P1 is not a therapeutic target, receptor, enzyme, transporter, or any protein-coding gene. It is a nonfunctional pseudogene; any mention of TMEM231P1 in therapeutic or mechanistic contexts is likely due to confusion with the functional gene TMEM231. This makes "is_incorrect: true" the appropriate assignment for clinical/research target listings[1][2][3].

Other names

TMEM231P1transmembrane protein 231 pseudogene 1