Tectonin beta-propeller repeat containing protein 2 (TECPR2) (TECPR2)

Tectonin beta-propeller repeat containing protein 2 (TECPR2) is a large scaffolding protein that plays a pivotal role in the regulation of macroautophagy and intracellular protein trafficking [UniProt: Q9H6X2]. It is characterized by the presence of multiple tectonin beta-propeller repeats, which facilitate its interaction with the Atg8 family of proteins, such as LC3, thereby promoting autophagosome maturation [PubMed: 25901084]. Beyond its role in autophagy, TECPR2 is essential for maintaining the structural integrity of the endoplasmic reticulum (ER) and the Golgi apparatus by coordinating COPII-dependent transport [PubMed: 32661056]. Loss-of-function mutations in the TECPR2 gene are the underlying cause of Hereditary Spastic Paraplegia type 49 (SPG49), a severe neurodegenerative disorder marked by progressive spasticity, intellectual disability, and autonomic dysfunction [OMIM: 615000]. While TECPR2 is not currently targeted by any approved pharmacological agents, it is a significant focus of research for gene therapy and potential small-molecule screens aimed at restoring autophagic flux in neurodegenerative contexts [PubMed: 34161762].

Other names

KIAA1583Spastic paraplegia 49 proteinSPG49

Not applicable