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- Table of Contents
Facts about Huntingtin.
Human | |
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Gene Name: | HTT |
Uniprot: | P42858 |
Entrez: | 3064 |
Belongs to: |
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huntingtin family |
HD protein; huntingtin (Huntington disease); huntingtin; IT15HDHuntington disease protein
Mass (kDA):
347.603 kDA
Human | |
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Location: | 4p16.3 |
Sequence: | 4; NC_000004.12 (3074681..3243960) |
Expressed in the brain cortex (at protein level). 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.
[Huntingtin]: Cytoplasm. Nucleus. Early endosome. The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner (PubMed:15654337). Recruits onto early endosomes in a Rab5- and HAP40-dependent fashion (PubMed:16476778).; [Huntingtin, myristoylated N-terminal fragment]: Cytoplasmic vesicle, autophagosome.
PMID: 8458085 by Macdonald M., et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
PMID: 11013077 by Matsuyama N., et al. Identification and characterization of the miniature pig Huntington's disease gene homolog: evidence for conservation and polymorphism in the CAG triplet repeat.