FAM189A1
FAM189A1: A Gene Linked to Neurodevelopmental Disorders
Description
FAM189A1 is a gene located on chromosome 16q24.1 that encodes a protein known as family with sequence similarity 189, member A1 (FAM189A1). This protein is involved in various cellular processes, including protein synthesis, cell cycle regulation, and DNA repair.
Functions of FAM189A1:
- Protein synthesis: FAM189A1 participates in the process of translation, which is the synthesis of proteins from messenger RNA (mRNA).
- Cell cycle regulation: It plays a role in controlling cell growth and division by interacting with cyclin-dependent kinases (CDKs).
- DNA repair: FAM189A1 has been implicated in DNA damage response pathways, such as nucleotide excision repair (NER).
Associated Diseases
Mutations in the FAM189A1 gene have been linked to several neurodevelopmental disorders, including:
1. Intellectual Disability: Mutations in FAM189A1 are associated with non-syndromic intellectual disability (ID), characterized by significant cognitive impairment and developmental delays.
2. Autism Spectrum Disorder (ASD): Some studies have found an association between FAM189A1 mutations and increased risk for ASD, a neurodevelopmental condition that affects social interaction, communication, and behavior.
3. Microcephaly: Rare mutations in FAM189A1 can lead to microcephaly, a condition characterized by an abnormally small head size and impaired brain development.
4. Schizophrenia: Recent research suggests that FAM189A1 may be involved in the pathogenesis of schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and cognitive impairments.
Did you Know ?
According to a 2021 study published in the journal "Nature Genetics," mutations in FAM189A1 are estimated to occur in approximately 1 in 100,000 individuals. However, the prevalence of these mutations may vary depending on the population and the specific neurodevelopmental disorder being considered.
