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Hht is a condition of gene changes, called genetic, that you get from your parents This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. It is an autosomal dominant disorder
That means if one of your parents has hht, you have a 50% chance of getting it Huntingtin is a disease gene linked to huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons If you have hht, each of your.
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). Variants (also called mutations) in the htt gene cause huntington's disease Although the function of this protein is unclear, it appears to play an important role in nerve cells (neurons) in the brain. Htt (huntingtin) is a protein coding gene
Among its related pathways are gene expression (transcription) and transcriptional regulation by mecp2. The normal function of htt, and the molecular mechanisms that contribute to the disease pathogenesis, are in the process of being elucidated In this review, we outline the potential functions of htt as defined by the proteins with which it has been found to interact. Learn about the htt gene and its relationship to huntington's disease, including symptoms, diagnosis, and potential treatments.
The htt gene, or huntingtin gene, holds the instructions for creating a protein called huntingtin
This protein is produced in cells throughout the body but is most active within the brain. The htt gene encodes huntingtin, a ubiquitously expressed nuclear protein that binds to a number of transcription factors to regulate transcription.
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