(= 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 the commonest form of the disease) increase the interaction of huntingtin with huntingtin-associated protein-1 (HAP-1) which is enriched in the brain and may be associated with pathology.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • huntingtin — /hunˈting tin/ noun A protein produced by the gene that causes Huntington s disease ORIGIN: Huntington s and ↑ in (1) …   Useful english dictionary

  • Huntingtin — Klassifikation nach ICD 10 G10 Chorea Huntington Chorea chronica progressiva hereditaria F02.2* Demenz bei Chorea Huntington …   Deutsch Wikipedia

  • 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 — 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… …   Medical dictionary

  • 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 = 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 = Cmd=ShowDetailView… …   Wikipedia

  • Hdh — huntingtin; Huntington disease homolog …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.