Huntingtin (HTT) ELISA Kit for Human

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 in the number of trinucleotide repeats 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 2008]

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: autophagic vacuole; axon; cell soma; centriole; clathrin-coated vesicle; cytoplasm; cytoplasmic vesicle membrane; cytosol; dendrite; endoplasmic reticulum; Golgi apparatus; inclusion body; late endosome; mitochondrion; nucleoplasm; nucleus; postsynaptic density; protein complex

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

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

Disease: Huntington Disease