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Cytoplasmic protein, found in fetal and adult peripheral tissue; function remains unclear. Of approximately 3000 amino-acid residues, it is elongated by polyglutamate residues of various lengths in Huntington disease (q.v.) and other neuropathies.
[Huntington + -in]
Farlex Partner Medical Dictionary © Farlex 2012
huntingtinA protein encoded by HTT on chromosome 4p16.3, which is widely expressed in tissues and thought to play a role in micotubule-mediated transport or vesicle function. HTT mutations are intimately linked to Huntington’s disease.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
A protein of unknown function encoded by the HD gene. The repeated CAG sequence in a defective HD gene causes the body to produce an abnormal form of huntingtin. It is not yet known why the abnormal form of huntingtin affects only certain regions of the brain.
Mentioned in: Huntington Disease
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.