Transmembrane protein 240 (TMEM240)

Transmembrane protein 240 (TMEM240) is a small, evolutionarily conserved membrane protein encoded by the TMEM240 gene (previously C1orf70), located on chromosome 1p36.33[5][7][8]. It is highly expressed in brain tissue, particularly in the cerebellum and other regions involved in motor control[3][4][5]. Mutations in TMEM240 cause spinocerebellar ataxia type 21 (SCA21), a rare autosomal dominant neurodegenerative disorder characterized by early-onset, slowly progressive cerebellar ataxia, cognitive impairment, and variable neurodevelopmental delay[2][4][6][8]. The exact physiological and molecular function of TMEM240 remains unclear, but it is believed to play a role in neuronal structure and function. Pathogenic variants (typically missense or nonsense mutations) disrupt normal protein function, leading to the SCA21 phenotype[2][6][8]. TMEM240 is not currently considered a therapeutic target, and no drugs are known to modulate its activity for disease treatment.

Other names

C1orf70SCA21transmembrane protein C1orf70TMEM240transmembrane protein 240

No established drugs; mechanism of pathogenesis is through gene mutations leading to protein dysfunction causing SCA21.