FAM101B
The Role of FAM101B in Health and Disease
Introduction
FAM101B is a gene that encodes a protein involved in various cellular processes, including cell signaling, immune function, and embryonic development. Mutations in the FAM101B gene have been linked to a range of diseases and conditions.
Description
The FAM101B gene is located on chromosome 11 and contains 13 exons. It encodes a protein of approximately 900 amino acids that belongs to the FAM101 family of proteins. FAM101B is a cytoplasmic protein that interacts with numerous other proteins, including G-proteins, kinases, and transcription factors.
Associated Diseases
Mutations in the FAM101B gene have been associated with several diseases, including:
- KIDINS220: A rare kidney disease characterized by proteinuria (presence of protein in the urine) and progressive renal failure.
- Infantile Neuronal Ceroid Lipofuscinosis (INCL): A neurodegenerative disorder characterized by seizures, cognitive decline, and vision loss.
- Colorectal Cancer: FAM101B mutations have been found in a subset of colorectal tumors, particularly those with microsatellite instability.
- Other diseases: FAM101B mutations have also been linked to intellectual disability, autism spectrum disorder, and microcephaly (small head size).
Did you Know ?
- Mutations in the FAM101B gene account for approximately 10% of cases of KIDINS220.
