FAM229A
Description
FAM229A (Family With Sequence Similarity 229 Member A) is a protein-coding gene located on the X chromosome. It is composed of 2 exons and encodes a protein of 310 amino acids. FAM229A is highly conserved across species, suggesting an essential biological role.
Associated Diseases
Mutations in FAM229A have been linked to several rare genetic disorders, including:
- Intellectual disability, X-linked 56 (IDXL56): This condition is characterized by intellectual disability and behavioral problems in males.
- Syndromic intellectual disability with seizures: This condition presents with intellectual disability, seizures, and other developmental anomalies.
- Autism spectrum disorder (ASD): Some studies suggest an association between FAM229A mutations and ASD in males.
Did you Know ?
- Mutations in FAM229A account for approximately 0.5-1% of cases of intellectual disability in males.
