FAM53B
FAM53B: An Essential Gene Involved in Neurodevelopment and Disease
Description
FAM53B (Family with Sequence Similarity 53 Member B) is a gene that encodes a protein involved in various cellular processes, including RNA metabolism, cell signaling, and neuronal development. The FAM53B protein is expressed in various tissues throughout the body, with particularly high levels found in the brain.
Associated Diseases
Mutations in the FAM53B gene have been linked to several neurodevelopmental disorders, including:
- Intellectual disability
- Autism spectrum disorder (ASD)
- Microcephaly (small head size)
- Schizophrenia
- Epilepsy
In addition, FAM53B mutations have been associated with other conditions such as:
- Heart defects
- Neural tube defects
- Retinal degeneration
Did you Know ?
According to a recent study, mutations in FAM53B are estimated to affect approximately 1 in 40,000 individuals worldwide. This makes FAM53B mutations one of the more common genetic causes of neurodevelopmental disorders.
