Web27 apr. 2001 · Huntingtin-interacting protein 1-related protein. Short names. ... Subcellular Location. UniProt Annotation. GO Annotation. Cytoplasm, perinuclear region. ... Gene expression databases. Bgee. ENSG00000130787 Expressed in C1 segment of cervical spinal cord and 184 other tissues; Web18 mei 2010 · Note: The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran …
Subcellular localization of the Huntington
Web22 mrt. 2016 · Huntington’s disease is an inherited disorder that occurs in adulthood and sometimes in children. It causes progressive damage to the brain and people with the … Web10 mrt. 2024 · HD is caused by trinucleotide (CAG) expansions in the Huntingtin (HTT) gene resulting in long stretches of the amino acid glutamine in the huntingtin protein. … tiffany sports announcer
The pathogenic exon 1 HTT protein is produced by incomplete
Web10 mrt. 2024 · Huntington’s disease (HD) results from autosomal dominant inheritance of a mutant huntingtin gene harboring a trinucleotide repeat expansion. Pathogenic huntingtin protein causes degeneration of neurons in the striatum and cerebral cortex, resulting in motor and psychiatric symptoms. Recent advances in the development of clustered … Web5 aug. 2024 · Despite the identification of an expanded CAG repeat on exon 1 of the huntingtin gene located on chromosome 1 as the genetic defect causing Huntington’s … WebSubcellular Location. UniProt Annotation. GO Annotation. Huntingtin. Cytoplasm 3 publications. ... The disease is caused by variants affecting the gene represented in this … tiffany sposato ormond beach fl