Transmembrane protein 222 (TMEM222)

Transmembrane protein 222 (TMEM222) is a human protein encoded by the TMEM222 gene, also known as C1orf160, located on chromosome 1p36.11[1][3][4]. The protein contains 208 amino acids and features three predicted transmembrane domains as well as a domain of unknown function (DUF778)[1][3]. TMEM222 is highly conserved across various eukaryotic organisms and is widely expressed in human tissues, with highest levels in the brain and in mature glutamatergic neurons, suggesting a specific function in neuronal development or synaptic activity[1][3]. Disease relevance has recently emerged, as biallelic deleterious variants in TMEM222 have been shown to cause an autosomal recessive neurodevelopmental disorder characterized by intellectual disability, motor and speech delay, and variable behavioral and neurological phenotypes, but the precise molecular function is not yet elucidated[3][4]. There is currently no evidence that TMEM222 is a therapeutic target, biomarker, or directly interacts with drugs[3][4].

Other names

TMEM222C1orf160DKFZP564D0478RP11-4K3__A.4MGC111002NEDMOSBAtransmembrane protein 222