Tectonin beta-propeller repeat-containing protein 2 pre-messenger RNA (TECPR2 pre-mRNA) (TECPR2 pre-mRNA)

TECPR2 pre-mRNA is the precursor messenger RNA transcript of the Tectonin beta-propeller repeat-containing protein 2 gene, which is essential for the regulation of autophagy and intracellular protein trafficking (Stadel et al., 2015). The resulting TECPR2 protein acts as a scaffold that facilitates the formation of autophagosomes by interacting with the COPII coat complex and ATG8 family proteins (Oz-Levi et al., 2012). Mutations in the TECPR2 gene, particularly those affecting the splicing of its pre-mRNA, are the primary cause of Hereditary Sensory and Autonomic Neuropathy type 9 (HSAN9), also known as Spastic Paraplegia 49 (SPG49). This rare neurodegenerative disorder is characterized by global developmental delay, autonomic instability, and progressive motor impairment. Therapeutic strategies targeting TECPR2 pre-mRNA utilize antisense oligonucleotides (ASOs) designed to modulate splicing, such as inducing the inclusion of exons that are skipped due to pathogenic mutations (Kim et al., 2019). By correcting the splicing of the pre-mRNA, these therapies aim to restore the production of functional TECPR2 protein and rescue autophagic flux in affected neurons. This approach represents a significant advancement in precision medicine for ultra-rare genetic conditions.

Other names

TECPR2 precursor mRNAKIAA0329 pre-mRNATectonin beta-propeller repeat-containing protein 2 transcript

Splice modulation to restore functional protein expression