TMSCH2

TMSCH2, also known as transmembrane 4L6 family member 2, is a protein that in humans is encoded by the TMEM259 gene. This gene belongs to the transmembrane 4L6 family, which includes proteins involved in various cellular processes. TMSCH2 is primarily expressed in the brain, where it is found in both the cytoplasm and the nucleus. The exact function of TMSCH2 is not fully understood, but it is believed to play a role in neuronal differentiation and development. The protein contains a transmembrane domain, which suggests it may be involved in membrane trafficking or signaling. Additionally, TMSCH2 has been implicated in the regulation of gene expression, as it interacts with transcription factors and can modulate their activity. Mutations in the TMEM259 gene have been associated with intellectual disability and autism spectrum disorder, indicating that TMSCH2 is likely involved in brain development and function. Further research is needed to fully elucidate the biological roles of TMSCH2 and its clinical significance.