Anti-WFS1 antibody

Supplementary info

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

Activity summary

WFS1 also known as Wolfram Syndrome 1 protein is involved in localizing to the endoplasmic reticulum (ER) membrane. It consists of approximately 890 amino acids and has a molecular mass of about 100 kDa. It is mainly expressed in the brain pancreas and heart reflecting its structural role in cellular organelles. The protein has ER-luminal and cytoplasmic domains which implicate it in maintaining ER function and homeostasis.

Biological function summary

This protein plays a role in modulating ER stress responses and calcium homeostasis. It is a part of a signaling complex that influences apoptotic pathways by regulating cellular stress responses. WFS1 affects the stability and function of the ER having an influence over insulin production and secretion. This regulation is important for cells especially those in the pancreatic islets as it affects the secretion of insulin in response to varying glucose levels.

Pathways

WFS1 integrates into the unfolded protein response (UPR) and calcium signaling pathways. These pathways connect to other proteins like ATF6 and PERK which mediate stress-induced responses and adaptations in cells. In the context of insulin regulation the protein contributes to vesicular fusion mechanisms and secretory pathways that facilitate insulin release. WFS1 influences glucose metabolism through direct interactions in pathways regulating cellular stress and protein folding.

Associated diseases and disorders

Mutations in this gene relate to Wolfram syndrome a condition characterized by diabetes insipidus diabetes mellitus optic atrophy and deafness. These mutations also connect to disorders like ataxia due to their involvement in neurodegenerative processes. WFS1 dysfunction impacts insulin regulation linking it with proteins like MANF that also mitigate ER stress and express protective roles against cellular stress conditions.