FAM63A
Description of FAM63A
Introduction
FAM63A (family with sequence similarity 63, member A) is a gene located on human chromosome 2q34. It encodes a protein involved in the regulation of cell growth and differentiation. Alterations in FAM63A have been associated with several diseases, including cancer, neurological disorders, and developmental disorders.
Structure and Function
The FAM63A protein, also known as C2CD3, is composed of an N-terminal coiled-coil domain, a central SANT domain, and a C-terminal D3 domain. The coiled-coil domain mediates protein-protein interactions, while the SANT and D3 domains are involved in DNA binding and chromatin remodeling. FAM63A acts as a transcriptional coactivator, regulating gene expression by facilitating the assembly of transcription factor complexes.
Associated Diseases
Cancer
- Breast cancer: FAM63A overexpression has been linked to increased cell proliferation, invasion, and metastasis in breast cancer.
- Prostate cancer: FAM63A amplification and overexpression have been observed in prostate cancer, contributing to tumor progression and poor prognosis.
- Glioblastoma: FAM63A downregulation has been associated with reduced cell proliferation and increased apoptosis in glioblastoma, suggesting its role as a potential therapeutic target.
Neurological Disorders
- Autism spectrum disorder (ASD): Mutations in FAM63A have been identified in individuals with ASD, suggesting its involvement in neurodevelopmental processes.
- Intellectual disability: FAM63A mutations have been reported in patients with intellectual disability, further supporting its role in cognitive development.
- Schizophrenia: FAM63A dysregulation has been implicated in the pathogenesis of schizophrenia, a complex psychiatric disorder characterized by cognitive and behavioral impairments.
Developmental Disorders
- Beckwith-Wiedemann syndrome: FAM63A is located within the 11p15.5 region, which is frequently affected by genetic alterations in Beckwith-Wiedemann syndrome, a rare overgrowth disorder.
- Fraser syndrome: Mutations in FAM63A have been identified in patients with Fraser syndrome, a rare genetic disorder characterized by facial dysmorphism, skeletal anomalies, and hearing loss.
Did you Know ?
- According to a study published in the journal "Molecular Cancer," FAM63A overexpression is present in approximately 20% of breast cancer cases and is associated with a significantly worse prognosis.
