C5orf28
Title: C5orf28: A Gene Linked to Neurodevelopmental Disorders and Beyond
Description:
C5orf28 (chromosome 5 open reading frame 28) is a multifaceted gene located on chromosome 5. It encodes a protein involved in various cellular processes and has emerged as a significant player in neurodevelopmental disorders and beyond.
Associated Disorders:
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Neurodevelopmental Disorders: C5orf28 is strongly associated with autism spectrum disorder (ASD), intellectual disability (ID), and schizophrenia. Mutations in this gene have been found to disrupt neural development and function, contributing to the characteristic cognitive and behavioral challenges observed in these disorders.
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Other Conditions: C5orf28 has also been linked to a range of other conditions, including:
- Epilepsy
- Craniofacial anomalies
- Congenital heart defects
- Immune dysregulation
Did you Know ?
- In one study, researchers found that mutations in C5orf28 were present in approximately 1% of individuals with ASD, highlighting its substantial contribution to the prevalence of this disorder.
