FAM134B

FAM134B, also known as TMEM134, is a transmembrane protein encoded by the FAM134B gene. This gene is located on chromosome 17 in humans. The protein it produces is characterized by multiple transmembrane domains, suggesting it plays a role in membrane-associated processes.

Research indicates that FAM134B is involved in endoplasmic reticulum stress responses and autophagy. Specifically, it has been identified as a receptor that binds to ubiquitinated proteins on the surface of the endoplasmic reticulum, facilitating their selective degradation through a process called ER-phagy, a type of selective autophagy. This mechanism is crucial for maintaining cellular homeostasis and responding to cellular damage.

Dysregulation of FAM134B has been implicated in various diseases. Studies have linked its altered expression to the development and progression of certain cancers, where it may influence tumor growth and survival. Furthermore, mutations or variations in the FAM134B gene have been associated with congenital anomalies of the kidney and urinary tract (CAKUT), a group of birth defects affecting the development of the kidneys and urinary system. Ongoing research continues to explore the precise functions of FAM134B and its potential as a therapeutic target.