Definitions for "Huntingtin"
The protein made by the IT-15 gene. People with Huntington have a huntingtin protein with more glutamines.
The Huntington gene codes for the protein huntingtin, which is present in all humans, with the greatest abundance in the brain and testes. The protein expressed in people with Huntington’s disease is chemically different from the protein in people who do not carry the mutation. close window
the protein encoded by the gene that carries the HD defect. The repeated CAG sequence in the gene causes an abnormal form of huntingtin to be formed. The function of the normal form of huntingtin is not yet known.