Recombinant Human FAM111B protein

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

FAM111B also known as Family with Sequence Similarity 111 Member B is a protein with a molecular mass of approximately 65 kDa. Mechanically FAM111B functions as a protease possessing specific proteolytic activity that modulates the function and stability of other proteins. This target is expressed in several tissues with notable expression in the thyroid prostate and skin. Its anatomical expression suggests a role in managing cellular regulatory mechanisms.

Biological function summary

The protein contributes to cellular processes like DNA replication and repair playing a role in maintaining genome stability. FAM111B is not known as part of any major protein complex but its enzymatic activity influences various cellular processes. It regulates proteins related to cell cycle control and apoptosis highlighting its significance in cell proliferation and survival.

Pathways

FAM111B's activity impacts both the cell cycle pathway and DNA damage response pathway. In the context of the cell cycle FAM111B modulates the activity of proteins like PCNA thereby influencing DNA synthesis and repair. Within the DNA damage response pathway it has links to proteins like ATR helping cells respond to DNA damage accurately and maintain integrity during replication. These pathways outline the intricacy of cellular homeostasis facilitated by FAM111B.

Mutations in FAM111B associate with conditions such as Gracile Bone Dysplasia and Kenny-Caffey Syndrome. Gracile Bone Dysplasia links to disordered bone growth due to impaired protein regulation by FAM111B while Kenny-Caffey Syndrome involves growth retardation and skeletal abnormalities. Changes in FAM111B activity can also influence proteins like RUNX2 a critical factor for bone development suggesting a wider impact on developmental disorders and system malformations.