FAM159B
FAM159B: An Essential Gene for Brain Function and Development
Description
FAM159B, also known as the C7orf25 gene, is a crucial protein-coding gene located on chromosome 7p21.3 in humans. It encodes the FAM159B protein, which plays a vital role in the proper development and functioning of the brain.
The FAM159B protein belongs to the FAM159 family of transmembrane proteins, which are characterized by their presence in the endoplasmic reticulum (ER) membrane. The ER is an essential cellular organelle involved in protein synthesis, folding, and transport.
Associated Diseases
Mutations in the FAM159B gene have been linked to several neurological disorders, including:
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Schizophrenia: Studies have shown that genetic variations in FAM159B are associated with an increased risk of developing schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and disorganized thinking.
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Autism Spectrum Disorder (ASD): Mutations in FAM159B have also been implicated in ASD, a neurodevelopmental disorder characterized by social and communication difficulties, as well as repetitive behaviors.
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Intellectual Disability: Severe mutations in FAM159B can lead to intellectual disability, a condition characterized by significant limitations in intellectual functioning and adaptive behavior.
Did you Know ?
Approximately 1 in 100,000 people are estimated to carry a mutation in the FAM159B gene, making it a relatively rare cause of neurological disorders. However, the effects of these mutations can be severe, highlighting the importance of understanding the role of this gene in brain function.
