HD Antibody – Mouse Monoclonal

Huntingtin is a disease gene linked to 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. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. 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 forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]

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.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: Golgi apparatus; cytoplasmic vesicle membrane; protein complex; mitochondrion; endoplasmic reticulum; dendrite; autophagic vacuole; inclusion body; cytosol; nucleoplasm; axon; cytoplasm; late endosome; nucleus

Molecular Function: identical protein binding; protein binding; p53 binding; dynein intermediate chain binding; beta-tubulin binding; diazepam binding; transcription factor binding

Biological Process: ER to Golgi vesicle-mediated transport; citrulline metabolic process; paraxial mesoderm formation; regulation of protein phosphatase type 2A activity; regulation of synaptic plasticity; locomotory behavior; determination of adult life span; endosome transport; anterior/posterior pattern formation; L-glutamate import; establishment of mitotic spindle orientation; regulation of mitochondrial membrane potential; protein import into nucleus; quinolinate biosynthetic process; organ development; retrograde vesicle-mediated transport, Golgi to ER; vesicle transport along microtubule; visual learning; negative regulation of neuron apoptosis; Golgi organization and biogenesis; endoplasmic reticulum organization and biogenesis; grooming behavior; positive regulation of inositol-1,4,5-triphosphate receptor activity; striatum development; axon cargo transport; cell aging; olfactory lobe development; social behavior; lactate biosynthetic process from pyruvate; neuron apoptosis; iron ion homeostasis; insulin secretion; dopamine receptor signaling pathway; hormone metabolic process; neuron development; spermatogenesis; regulation of mitochondrial membrane permeability; response to calcium ion; neural plate formation; urea cycle

Disease: Huntington Disease