Welcome to the TUBB3 Foundation! We are a group of parents with children that are affected by multiple variations of TUBB3 gene mutations.
Our goal is to create awareness of TUBB3 mutations, to provide emotional support to families affected by TUBB3 mutations, and we hope to eventually help facilitate research through education, contributions, and donations.
The human TUBB3 gene is located on chromosome 16q24.3, and consists of 4 exons that transcribe a protein of 450aa. A shorter isoform of 378aa derived from alternative splicing of exon 1 is devoid of part of the N-terminus and may be responsible for mitochondrial expression. Researchers have identified a series of heterozygous missense mutations… Continue reading What is TUBB3?
Please leave your information and any questions or comments you have and we will be glad to get back to you soon! You can also find us on Facebook TUBB3 Foundation or you can email us at TUBB3Foundation@hotmail.com
Each donation can further our outreach, spread awareness of TUBB3 gene mutations, and give future families that are diagnosed more hope and more information! Research breakthroughs are a reality with your help!
TUBB3 Foundation 