ACSS1

ACSS1, also known as Activating Signal Cointegrator 1, is a protein that in humans is encoded by the ACSS1 gene. This gene is located on chromosome 19q13.3. ACSS1 is a member of the Activating Signal Cointegrator (ASC) family of proteins, which are involved in the regulation of cell signaling pathways. The ASC family includes ACSS1, ACSS2, and ACSS3.

ACSS1 plays a crucial role in the activation of the NF-κB (nuclear factor-kappa B) pathway, which is a key regulator of inflammation and immune responses. The NF-κB pathway is activated in response to various stimuli, including bacterial infections, cytokines, and stress signals. ACSS1 acts as a scaffold protein, bringing together and facilitating the interaction of other proteins involved in the activation of NF-κB.

Mutations in the ACSS1 gene have been associated with a rare genetic disorder called ACSS1-related autoinflammatory syndrome. This syndrome is characterized by recurrent episodes of fever, rash, and joint pain, often triggered by infections or stress. The exact mechanism by which ACSS1 mutations lead to this syndrome is not fully understood, but it is believed to involve dysregulation of the NF-κB pathway.

ACSS1 is expressed in various tissues, including the liver, spleen, and immune cells. Its expression is regulated by various factors, including cytokines and stress signals. The protein is localized to the cytoplasm and nucleus, where it plays a role in the regulation of gene expression.

In summary, ACSS1 is a protein that plays a critical role in the activation of the NF-κB pathway, which is involved in inflammation and immune responses. Mutations in the ACSS1 gene can lead to a rare genetic disorder characterized by recurrent episodes of fever, rash, and joint pain. ACSS1 is expressed in various tissues and is regulated by various factors.