FAM57A
Fam57a: A Comprehensive Overview
Introduction
FAM57A (Family with sequence similarity 57, member A) is a protein-coding gene that plays a crucial role in various cellular processes, including cell differentiation, migration, adhesion, and proliferation. Mutations in FAM57A have been linked to several diseases, including osteosarcoma and pulmonary fibrosis.
Description
FAM57A encodes a 454-amino acid protein that is localized to the endoplasmic reticulum (ER). The protein has two domains: an N-terminal transmembrane domain and a C-terminal domain that contains a conserved PDZ (PSD-95/Dlg/ZO-1) binding motif. FAM57A interacts with several proteins, including integrins, cadherins, and ER chaperones, facilitating cell-cell adhesion and ER-Golgi trafficking.
Associated Diseases
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Osteosarcoma: FAM57A mutations are found in approximately 10% of osteosarcomas, a type of bone cancer. These mutations often result in the loss of FAM57A function, impairing cell adhesion and promoting tumor growth.
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Pulmonary fibrosis: FAM57A mutations have also been linked to pulmonary fibrosis, a lung disease characterized by the scarring of lung tissue. These mutations lead to the accumulation of FAM57A protein in the ER, causing ER stress and ultimately fibrosis.
Did you Know ?
A study published in the journal Nature Medicine found that individuals with FAM57A mutations have a significantly higher risk of developing idiopathic pulmonary fibrosis (IPF), a severe form of pulmonary fibrosis. The study estimated that FAM57A mutations account for approximately 10% of IPF cases.
