FAM9A
FAM9A: A Gene Linked to Autism Spectrum Disorder (ASD) and Other Conditions
Description
FAM9A (Family with Sequence Similarity 9, Member A) is a gene that encodes a protein known as FAM9A, which plays an important role in cellular functions. The FAM9A protein is involved in the regulation of synaptic plasticity, the process by which the strength of synaptic connections between neurons can be modified. It is also thought to be involved in the formation of the extracellular matrix, which provides structural support to cells and tissues.
Associated Diseases
Mutations in the FAM9A gene have been linked to several neurological and developmental disorders, including:
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Autism Spectrum Disorder (ASD): FAM9A is one of the most commonly mutated genes associated with ASD, accounting for approximately 1-2% of cases. ASD is a neurodevelopmental disorder characterized by social communication difficulties, repetitive behaviors, and restricted interests.
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Intellectual Disability (ID): Mutations in FAM9A can also cause ID, which is a condition characterized by significant limitations in intellectual functioning and adaptive behavior.
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Schizophrenia: Studies have suggested an association between FAM9A mutations and an increased risk of schizophrenia, a mental health disorder characterized by delusions, hallucinations, and disorganized thinking.
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Microcephaly: Mutations in FAM9A have been linked to microcephaly, a condition in which the head circumference is abnormally small.
Did you Know ?
According to a study published in the journal Nature Genetics, approximately 1 in 100 individuals with ASD have a mutation in the FAM9A gene. This makes FAM9A one of the most common genetic risk factors for ASD.
