RHEB1

RHEB1, also known as Ras homolog enriched in brain 1, is a protein that plays a crucial role in cell division and differentiation. It is a member of the Ras superfamily of small GTPases, which are involved in various cellular processes, including signal transduction and cell cycle regulation. RHEB1 is primarily expressed in the brain and is essential for the development and maintenance of neuronal cells.

RHEB1 functions by cycling between an active, GTP-bound state and an inactive, GDP-bound state. In its active form, RHEB1 activates mTORC1 (mammalian target of rapamycin complex 1), a key regulator of cell growth and metabolism. mTORC1, in turn, promotes protein synthesis and inhibits autophagy, processes that are vital for cell survival and differentiation.

Mutations in the RHEB1 gene have been linked to several neurological disorders, including autism spectrum disorder (ASD) and intellectual disability. These mutations can disrupt the normal function of RHEB1, leading to impaired neuronal development and function. Additionally, RHEB1 has been implicated in cancer, where it contributes to tumor growth and progression by promoting cell proliferation and inhibiting apoptosis.

RHEB1 is a highly conserved protein, with orthologs found in various eukaryotic organisms, including yeast, flies, and mammals. This conservation suggests that RHEB1 plays a fundamental role in cellular processes that are essential for life. Despite its importance, the molecular mechanisms underlying RHEB1 function and its role in disease remain areas of active research.