Definition of huntingtin
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 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.
Last Editorial Review: 6/14/2012
Back to MedTerms online medical dictionary A-Z List
Need help identifying pills and medications?
- Allergic Skin Disorders
- Bacterial Skin Diseases
- Bites and Infestations
- Diseases of Pigment
- Fungal Skin Diseases
- Medical Anatomy and Illustrations
- Noncancerous, Precancerous & Cancerous Tumors
- Oral Health Conditions
- Papules, Scales, Plaques and Eruptions
- Scalp, Hair and Nails
- Sexually Transmitted Diseases (STDs)
- Vascular, Lymphatic and Systemic Conditions
- Viral Skin Diseases
- Additional Skin Conditions