Description
The Huntingtin gene, also called HTT or HD (Huntington disease), is the IT15 (interesting transcript 15) gene which codes for a protein called the Huntingtin. The protein has no sequence homology with other proteins and is highly expressed in neurons and tests in humans and rodents. HTT upregulates the expression of Brain Derived Neurotrophic Factor (BDNF) at the transcription level, and this gene is required for normal development. HTT is involved in vesicle trafficking as it interacts with HIP1, a clathrin-binding protein, to mediate endocytosis, the absorption of materials into a cell. HTT was also visualized as punctate staining likely to represent nerve endings. Additionally, wildtype Huntingtin may function in the nucleus in the assembly of nuclear matrix-bound protein complexes involved with transcriptional repression and RNA processing