Source: PM19886704
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)

Gene names: HTT , HD, IT15
Protein names and data: HD_HUMAN , Huntingtin , Huntington disease protein; HD protein Lenght: 3142 a.a.
Mass: 347603 Da
fasta formatted sequence

Function: May play a role in microtubule-mediated transport or vesicle function.
Cellular location: Cytoplasm. Nucleus. Note=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.
Tissue specificity: 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.

Genetic variants

The poly-Gln region of HTT is highly polymorphic (10 to 35 repeats) in the normal population and is expanded to about 36-120 repeats in Huntington disease patients. The repeat length usually increases in successive generations, but contracts also on occasion. The adjacent poly-Pro region is also polymorphic and varies between 7-12 residues. Polyglutamine expansion leads to elevated susceptibility to apopain cleavage and likely result in accelerated neuronal apoptosis.

Database cross-references

UniProt: P42858
Ensembl: ENST00000355072
MIM: 143100
MIM: 613004
neXtProt: NX_P42858
Antibodypedia: P42858 (may not find the protein thus also not any antibody)
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