TOLLL1

TOLLL1, also known as TOLL-like 1, is a protein-coding gene located on chromosome 17q21.31 in humans. It is a member of the TOLL-like receptor family, which plays a crucial role in the innate immune response. The TOLLL1 gene encodes a protein that functions as a receptor for various ligands, including lipopolysaccharides (LPS) and other pathogen-associated molecular patterns (PAMPs).

The TOLLL1 protein is primarily expressed in immune cells, such as macrophages and dendritic cells, where it helps to recognize and respond to microbial infections. Upon binding to its ligands, TOLLL1 initiates a signaling cascade that leads to the activation of downstream immune responses, including the production of pro-inflammatory cytokines and the induction of antimicrobial peptides.

Mutations in the TOLLL1 gene have been associated with various immune-related disorders, including autoinflammatory syndromes and immunodeficiency. For example, loss-of-function mutations in TOLLL1 have been linked to the development of familial Mediterranean fever (FMF), a genetic disorder characterized by recurrent episodes of fever and inflammation.

In summary, TOLLL1 is an essential gene in the innate immune system, encoding a receptor that plays a critical role in the recognition and response to microbial infections. Mutations in TOLLL1 can lead to immune-related disorders, highlighting the importance of this gene in maintaining immune homeostasis.