FAM76B
FAM76B: A Comprehensive Guide
Introduction
FAM76B, also known as family with sequence similarity 76 member B, is a gene located on the short arm of chromosome 11 in humans (11p15.4). It encodes a protein with multiple functions, including roles in cell growth, differentiation, and survival. Dysregulation of FAM76B has been implicated in various diseases, including cancer, neurodegenerative disorders, and immune system dysfunction.
Description
The FAM76B gene spans over 200 kilobases and contains 14 exons. The protein it encodes consists of 547 amino acids and has a molecular weight of approximately 60 kDa. The FAM76B protein contains several conserved domains, including an N-terminal Src homology 3 (SH3) domain, a central coiled-coil domain, and a C-terminal PDZ domain. These domains enable FAM76B to interact with a variety of other proteins and participate in multiple cellular signaling pathways.
Functions
FAM76B is a multifunctional protein involved in various cellular processes. It has been shown to regulate cell growth and proliferation by interacting with the mTOR signaling pathway. Additionally, FAM76B plays a role in cell differentiation and development by modulating the expression of genes involved in these processes. Furthermore, FAM76B has been implicated in cell survival and apoptosis, and its dysregulation can lead to cell death.
Associated Diseases
Mutations and dysregulation of FAM76B have been linked to several diseases, including:
- Cancer: FAM76B has been found to be overexpressed or amplified in various types of cancer, including breast cancer, lung cancer, and prostate cancer. This overexpression can promote cell proliferation, invasion, and metastasis.
- Neurodegenerative disorders: FAM76B mutations have been identified in patients with Alzheimer‘s disease and Parkinson‘s disease. These mutations can impair the protein‘s function and contribute to neuronal loss and cognitive decline.
- Immune system dysfunction: FAM76B has been found to regulate the function of immune cells, such as macrophages and T cells. Its dysregulation can lead to impaired immune responses and increased susceptibility to infections.
Did you Know ?
- Approximately 5% of individuals with Alzheimer‘s disease carry a mutation in the FAM76B gene.
