FAM19A5
FAM19A5: A Gene Linked to Rare Developmental Disorders
Description
FAM19A5 (Family with sequence similarity 19, member A5) is a gene located on chromosome 11q14.1-q14.2. It encodes a protein known as FAM19A5, which is expressed in various tissues and plays a role in cellular processes such as RNA splicing, protein translation, and organelle biogenesis.
Associated Diseases
Mutations in the FAM19A5 gene have been associated with a group of rare developmental disorders known as FAM19A5-related disorders. These disorders share common clinical features, including:
- Intellectual disability
- Seizures
- Hypotonia (low muscle tone)
- Dysmorphic facial features
- Growth retardation
- Structural brain abnormalities
The specific symptoms and severity can vary depending on the nature and location of the mutation.
Did you Know ?
Approximately 1 in every 100,000 individuals is estimated to be affected by FAM19A5-related disorders, making them exceedingly rare conditions.
