FAM126B
FAM126B: An Emerging Player in Health and Disease
Description
FAM126B (Family with sequence similarity 126B) is a protein-coding gene located on the X chromosome. It encodes a protein involved in various cellular processes, including RNA metabolism, transcriptional regulation, and DNA repair. Functional dysregulation of FAM126B has been linked to several diseases, making it an important target for research.
Associated Diseases
1. Coffin-Siris Syndrome
Coffin-Siris syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and reduced growth. Mutations in FAM126B are the most common genetic cause of this syndrome.
2. Autism Spectrum Disorder (ASD)
Studies have identified an association between FAM126B variants and an increased risk of ASD. These variants may disrupt crucial neurodevelopmental processes, leading to symptoms such as impaired social communication and repetitive behaviors.
3. Intellectual Disability
FAM126B mutations have been implicated in non-specific intellectual disability. These mutations often result in a lack of functional FAM126B protein, affecting cognitive development and learning abilities.
4. Cancer
Recent research suggests a role for FAM126B in cancer development. Decreased FAM126B expression has been observed in certain types of cancer, such as lung and ovarian cancer, and may promote tumor cell proliferation and metastasis.
Did you Know ?
According to a study published in the journal Nature Genetics, mutations in FAM126B are found in approximately 1% of individuals with Coffin-Siris syndrome. This highlights the significant role of FAM126B in this rare disorder.
