FAT1
Description
The FAT1 gene provides instructions for making a protein called FAT1. This protein is a large, transmembrane protein that plays a critical role in cell-cell adhesion, a process essential for tissue development and function. FAT1 helps cells connect to each other and form strong, organized tissues. It also participates in signaling pathways that regulate cell growth, differentiation, and migration. Mutations in the FAT1 gene can disrupt these processes, leading to various developmental and disease conditions.
Associated Diseases
- Van der Woude syndrome
- Orofaciodigital syndrome type I
- Hypohidrotic ectodermal dysplasia
- Congenital heart defects
- Cancer (e.g., breast cancer, colorectal cancer)
- Neurodevelopmental disorders
Did you know?
The FAT1 protein is one of the largest proteins known in humans, with over 5,000 amino acids.
