CREB3L1

CREB3L1 (cAMP responsive element binding protein 3 like 1) is a protein that in humans is encoded by the CREB3L1 gene. This protein is a member of the CREB/ATF family of transcription factors.

Function

The CREB3L1 gene encodes a transmembrane protein that is preferentially expressed in the liver. This protein functions as a transcription factor to negatively regulate the expression of genes involved in lipid metabolism. It is also involved in the unfolded protein response (UPR), a cellular stress response pathway that is activated by an accumulation of unfolded proteins in the endoplasmic reticulum.

Clinical significance

Mutations in the CREB3L1 gene have been associated with osteogenesis imperfecta, a genetic disorder characterized by brittle bones that break easily. Additionally, the CREB3L1 gene has been implicated in several types of cancer, including hepatocellular carcinoma and glioblastoma.

Research

Research into the CREB3L1 gene and its protein product is ongoing, with studies focusing on its role in lipid metabolism, the unfolded protein response, and disease processes such as osteogenesis imperfecta and cancer.

See also

• CREB
• Transcription factor
• Osteogenesis imperfecta
• Hepatocellular carcinoma
• Glioblastoma