FAM53C

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FAM53C: A Protein with a Role in Human Health and Disease

Description

FAM53C (Family with Sequence Similarity 53, Member C) is a protein encoded by the FAM53C gene in humans. It is a member of the FAM53 family of proteins, which are characterized by their conserved FAM53 domain. FAM53C is a multifunctional protein that plays crucial roles in various cellular processes, including cell growth, proliferation, differentiation, and apoptosis.

The FAM53C protein is localized to the mitochondria, where it primarily functions in mitochondrial dynamics and biogenesis. It is involved in regulating mitochondrial fusion and fission, thereby contributing to the maintenance of mitochondrial morphology and functionality. FAM53C also participates in mitochondrial quality control by facilitating the removal of damaged mitochondria through mitophagy.

Associated Diseases

Dysregulation of FAM53C expression or function has been implicated in the pathogenesis of several human diseases, including:

• Cancer: FAM53C has been found to be overexpressed in various types of cancer, including breast cancer, lung cancer, and liver cancer. Its overexpression is associated with increased cell proliferation, migration, and invasion, contributing to tumor growth and progression.

• Neurological disorders: Mutations in the FAM53C gene have been linked to neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These mutations impair the protein‘s function in mitochondrial dynamics, leading to mitochondrial dysfunction and neuronal damage.

• Metabolic disorders: FAM53C deficiency has been associated with mitochondrial dysfunction in skeletal muscle, resulting in impaired oxidative phosphorylation and exercise intolerance. This has been observed in conditions such as mitochondrial myopathy and exercise intolerance.

Did you Know ?

• Studies have shown that FAM53C is upregulated in over 60% of breast cancer cases. Increased FAM53C expression in breast cancer is significantly associated with poor prognosis and reduced patient survival.