HNRNPU is a gene located on chromosome 1q44 that encodes a protein called heterogeneous nuclear ribonucleoprotein U. This protein belongs to a family of HNRNPs—key players in the processing of DNA and RNA. HNRNPU, in particular, is involved in critical functions like alternative splicing, where RNA is trimmed and rearranged before being translated into proteins.

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HNRNPU is expressed in many parts of the body, including the brain. Mutations in this gene can lead to significant medical challenges, most commonly neurodevelopmental delays and epilepsy. In nearly all cases, these mutations are de novo, meaning they occur spontaneously and are not inherited from either parent.

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Better Future 4 U is a nonprofit organization dedicated to advancing understanding, awareness, and research around HNRNPU neurodevelopmental disorder. We work to fund cutting-edge research and collaborate with scientists to uncover treatments and, one day, a cure. Just as importantly, we build community—connecting families and caregivers navigating life with an HNRNPU diagnosis.