It is an autosomal dominant disorder That means if one of your parents has hht, you have a 50% chance of getting it If you have hht, each of your children has a 50% chance of getting it from you. The htt gene provides instructions for making a protein called huntingtin Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain and is essential for normal development before birth. Mutations in the htt gene are responsible for huntington's disease
This gene codes for the huntingtin protein and within the htt gene is a dna sequence known as the cag trinucleotide repeat. Htt (huntingtin) is a protein coding gene Among its related pathways are gene expression (transcription) and transcriptional regulation by mecp2.
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