Huntingtin
Huntingtin (HTT, also known as IT15 and HD) is a member of the huntingtin family that promotes the formation of autophagic vesicles. The HTT gene is linked to Huntington's disease, a neurodegenerative disorder marked by loss of striatal neurons. Browse Assay Genie's current range of Huntingtin research reagents below, or read on for the biology behind the target.
Huntingtin promotes the formation of autophagic vesicles. The protein is found in the cytoplasm and the nucleus, and is also annotated at early endosomes and at cytoplasmic vesicles, including autophagosomes. It belongs to the huntingtin family, and HGNC places it in the groups of receptor ligands, armadillo-like helical domain containing proteins and centriolar satellite proteins.
The huntingtin gene is large, spanning about 180 kb and consisting of 67 exons. It is widely expressed and is required for normal development. Two alternatively polyadenylated transcripts are produced, with different relative abundance in foetal and adult tissues. The larger transcript, of roughly 13.7 kb, is expressed predominantly in adult and foetal brain, while the smaller one, of roughly 10.3 kb, is more widely expressed. An upstream open reading frame in the 5' UTR represses translation of the gene product. Researchers studying the HTT gene or the huntingtin protein therefore need to consider both transcript forms and translational control.
HTT is a disease gene linked to Huntington's disease, and its previous name was huntingtin (Huntington disease). The disease is thought to arise from an expanded, unstable trinucleotide repeat that is translated as a polyglutamine repeat in the protein. Repeat numbers from 9 to 35 have been found in normal controls, and more than 40 repeats have been described as pathological. The genetic defect may not eliminate transcription. It may instead confer a new property on the mRNA or alter protein function. One candidate mediator is huntingtin-associated protein-1, which is highly expressed in brain and has increased affinity for huntingtin with expanded polyglutine repeats.
HTT is the disease gene linked to Huntington's disease, a neurodegenerative disorder characterised by loss of striatal neurons.
Huntingtin promotes the formation of autophagic vesicles, and it is annotated at autophagosomes.
An expanded, unstable trinucleotide repeat in HTT encodes a polyglutamine tract, with more than 40 repeats described as pathological.
Two transcripts with different tissue distribution, plus an upstream open reading frame that represses translation, make HTT a useful model of expression control.
Huntingtin promotes the formation of autophagic vesicles. It is found in the cytoplasm, nucleus, early endosomes and autophagosomes. The gene is widely expressed and required for normal development. It is best known as the disease gene linked to Huntington's disease.
The HGNC symbol is HTT, and the aliases are IT15 and HD. The previous name was huntingtin (Huntington disease). The gene produces two alternatively polyadenylated transcripts, of about 13.7 kb and 10.3 kb, which differ in abundance between tissues.
An expanded CAG-type trinucleotide repeat in HTT, encoding polyglutamine, is thought to cause Huntington's disease, with over 40 repeats described as pathological. Orthologues exist as Htt in mouse and rat; check the datasheet of any product for its validated reactivity.
Autophagy markers, neurodegeneration targets and huntingtin-associated proteins with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P42858; product specifications from Assay Genie datasheets.