The FAM3B protein has been observed to cause apoptosis in both alpha and beta cells. This effect is dependent on both the concentration of FAM3B and the duration of exposure.
The FAM3B gene is located on chromosome 21q22.3 and spans more than 40 kilobases (kb). It contains at least eight exons . The protein encoded by FAM3B consists of 235 amino acids and includes an N-terminal signal peptide. The protein is predicted to form a four-helix bundle, with four cysteines forming two disulfide bonds that link helices 1 and 4, and helices 2 and 3 .
FAM3B is highly expressed in the pancreas, particularly in the islets of Langerhans, which are clusters of cells responsible for producing insulin. Lower levels of expression are also observed in the small intestine and prostate . Immunohistochemical analysis has shown prominent staining of FAM3B in the endocrine pancreas, round spermatids within the seminiferous tubules, the Purkinje cell layer of the cerebellum, and nerve cell bodies of various brainstem nuclei .
FAM3B plays a role in regulating insulin secretion. Studies have shown that recombinant mouse FAM3B inhibits basal insulin secretion in a mouse beta-cell line, although it does not affect glucose-stimulated insulin secretion . This inhibition is not mediated by glucose metabolism, suggesting a unique regulatory mechanism.
Additionally, FAM3B has been found to induce apoptosis (programmed cell death) of alpha and beta cells in a dose- and time-dependent manner . This apoptotic activity highlights its potential role in pancreatic cell turnover and homeostasis.
Alterations in the FAM3B gene have been associated with various diseases. For instance, it has been linked to adult embryonal tumors with multilayered rosettes and dystonia, a movement disorder characterized by involuntary muscle contractions . The gene’s involvement in insulin secretion also suggests potential implications in diabetes research and therapy.
The study of FAM3B has provided insights into its structure, function, and role in disease. Recombinant FAM3B proteins are used in research to further understand its biological activities and potential therapeutic applications. The gene’s expression patterns and regulatory mechanisms continue to be areas of active investigation.