FAM201A
Description
The FAM201A (family with sequence similarity 201 member A) is a ncRNA gene located on chromosome 9.
FAM201A is a gene located on chromosome 17 in humans. It encodes a protein kinase responsible for the phosphorylation of a specific motif within secreted proteins, notably collagens, BMPs, and fibrillin-1. This phosphorylation is essential for the correct folding and assembly of these proteins, playing a significant role in processes like bone formation, extracellular matrix organization, and cell signaling. Mutations in FAM201A are associated with Raine syndrome, a rare genetic condition characterized by skeletal abnormalities, skin problems, and developmental delays.
FAM201A is a gene that encodes a protein involved in the phosphorylation of a variety of secreted proteins, including collagens, bone morphogenetic proteins (BMPs), and fibrillin-1. This phosphorylation is crucial for the proper folding and assembly of these proteins, which are important for various biological processes such as bone formation, extracellular matrix organization, and cell signaling. Mutations in FAM201A can lead to a rare genetic disorder called Raine syndrome, characterized by skeletal abnormalities, skin problems, and developmental delays.
FAM201A is also known as C9orf122.
