AFF4 : ALF transcription elongation factor 4

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Unveiling the Role of the AFF4 Gene: A Guardian of Embryonic Development

Description

Nestled within our genetic blueprint, the AFF4 gene holds a vital function in the intricate symphony of embryonic development. It orchestrates the production of a pivotal protein complex known as the super elongation complex (SEC), which plays a central role in transcription, the crucial first step in protein synthesis from genes.

Associated Diseases

Mutations in the AFF4 gene have been linked to a rare genetic disorder called AFF4-related intellectual disability. This condition can manifest as developmental delays, intellectual disability, and autism spectrum disorder.

Did you Know ?

Studies estimate that approximately 1 in every 100,000 individuals worldwide carry a mutation in the AFF4 gene.