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Huntingtin may play a role in microtubule-mediated transport or vesicle function. Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation. Defects are the cause of Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. 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. The Huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The Huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated isoforms displaying different relative abundance in various fetal and adult tissues. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 4p16.3
Cellular Component: autophagic vacuole; axon; centriole; cytoplasm; cytoplasmic vesicle membrane; cytosol; dendrite; endoplasmic reticulum; Golgi apparatus; inclusion body; late endosome; nucleoplasm; nucleus; perinuclear region of cytoplasm; protein complex
Molecular Function: beta-tubulin binding; dynein intermediate chain binding; heat shock protein binding; identical protein binding; kinase binding; p53 binding; profilin binding; protein binding; transcription factor binding
Biological Process: establishment of mitotic spindle orientation; Golgi organization and biogenesis; organ development; positive regulation of apoptosis; positive regulation of flagellum biogenesis; positive regulation of inositol-1,4,5-triphosphate receptor activity; protein destabilization; regulation of phosphoprotein phosphatase activity; retrograde vesicle-mediated transport, Golgi to ER; vesicle transport along microtubule; vocal learning
Disease: Huntington Disease
Reference #:  P42858 (UniProtKB)
Alt. Names/Synonyms: HD; HD protein; HTT; Huntingtin; Huntington disease protein; IT15
Gene Symbols: HTT
Molecular weight: 347,603 Da
Basal Isoelectric point: 5.81  Predict pI for various phosphorylation states
CST Pathways:  PI3K/Akt Signaling
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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