C4orf26


C4orf26: A Gene Linked to Neurodevelopmental Disorders

Description

C4orf26 (chromosome 4 open reading frame 26) is a gene located on chromosome 4 in humans. It encodes a protein of unknown function, but research suggests that it plays a role in neurodevelopment and neural function.

Associated Diseases

Mutations in the C4orf26 gene have been linked to several neurodevelopmental disorders, including:

  • Autism spectrum disorder (ASD): C4orf26 mutations are found in approximately 1-2% of individuals with ASD.
  • Intellectual disability (ID): C4orf26 mutations are associated with both syndromic and non-syndromic forms of ID.
  • Speech and language disorders: Mutations in C4orf26 have been linked to difficulties with speech and language development.

Did you Know ?

Approximately 40% of individuals with a C4orf26 mutation also have a mutation in another gene called CHD8. Both C4orf26 and CHD8 are involved in neural development, and their combined mutations may increase the risk of neurodevelopmental disorders.


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