Transmembrane Protein 120A (TMEM120A)

TMPIT is a 343 amino acid multi-pass membrane protein that exists as two alternatively spliced isoforms belonging to the TMEM120 family. The gene encoding TMPIT maps to human chromosome 7q11.23 and mouse chromosome 5 G2. Human chromosome 7 is about 158 milllion bases long, encodes over 1,000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance.