- The name of the gene responsible for Huntington disease (HD) and of the protein encoded by that gene. The molecular basis of HD is an increase in the length of a CAG triplet repeat (or 'polyglutamine') within the huntingtin gene. The gene is on chromosome 4p16.3. The huntingtin mutation (gene change) is fully dominant; homozygotes (who have two copies of the huntingtin gene) are no more severely affected than heterozygotes (who have only one copy of the gene). It has long been recognized that paternal transmission results in increased severity (the 'rigid' form), earlier onset (anticipation), and more rapid progress than does maternal transmission of the gene. HD gives rise to progressive, selective (localized) death of neuronal cells (neural cells) associated with choreic (involuntary) movements, gradually decreasing psychomotor skills and dementia (mental deterioration). It is the terrible disease that caused the decline and death of the American folksinger Woody Guthrie (1912-1967) who wrote "Your Land is My Land", "So Long it's Been Good to Know You" and many other memorable songs.
* * *hun·ting·tin (hunґting-tin) a protein encoded by a gene located on 4p16.3 and altered in structure and function in Huntington disease. Mutation causes increased and unstable numbers of CAG triplet repeats in the gene and thus increased numbers of glutamine residues in the protein; above a threshold of 40 glutamine repeats, clinical disease is apparent, with age of onset inversely correlated with the number of repeats. The altered proteins tend to form tangled aggregates.
Medical dictionary. 2011.
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huntingtin — (= huntingtin associated protein 1) Protein product of the IT15 gene that has variable numbers of polyglutamine repeats in Huntington s chorea. The IT15 gene is widely expressed and required for nomal development. The polyglutamine repeats (44 in … Dictionary of molecular biology
huntingtin — /hunˈting tin/ noun A protein produced by the gene that causes Huntington s disease ORIGIN: Huntington s and ↑ in (1) … Useful english dictionary
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Huntingtin — PBB Summary section title = summary text =The Huntingtin gene, also called HD (Huntington disease) gene, or the IT15 ( interesting transcript 15 ) gene codes for a 348 kDa protein called huntingtin protein. The exact function of this protein is… … Wikipedia
huntingtin — noun A protein whose polymorphism is associated with Huntingtons chorea … Wiktionary
Huntingtin-associated protein 1 — (neuroan 1) Identifiers Symbol HAP1 Alt. symbols HAP2 Entrez 9001 … Wikipedia
Huntingtin protein — protein Name = Huntingtin width = caption = Symbol = Htt AltSymbols = ATC prefix= ATC suffix= ATC supplemental= CAS number= CAS supplemental= DrugBank= EntrezGene = HGNCid = OMIM = PDB = RefSeq = UniProt = ECnumber = Chromosome = 4 Arm = p16.3… … Wikipedia
HIP2 — Huntingtin interacting protein 2, also known as HIP2, is a human gene.cite web | title = Entrez Gene: HIP2 huntingtin interacting protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=3093| accessdate … Wikipedia
HIP1R — Huntingtin interacting protein 1 related, also known as HIP1R, is a human gene.cite web | title = Entrez Gene: HIP1R huntingtin interacting protein 1 related| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… … Wikipedia
Hdh — huntingtin; Huntington disease homolog … Medical dictionary