Short Description: Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008]. More information related to gene Huntingtin.
Synonyms and alternative names related to Huntingtin
huntingtin (HTT)
huntingtin (htt)
huntingtin (LOC373520)
huntingtin (Htt)
AI256365
C430023I11Rik
CG9995
dHtt
dhtt
Dmel\\CG9995
hd
HD
Hd
Hdh
Hsap\\HD
HTT
Htt
htt
huntington
it15
IT15
SLC6A4
ZHD
Gene-IDs for different species
Protein level used designations for Huntingtin
huntingtin
etID309952.1
CG9995-PA
CG9995-PB
htt-PA
htt-PB
Huntington's disease protein
huntingtin (Huntington disease)
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Huntington disease
huntingtin-like
huntington disease protein
HD protein homolog
Huntington disease gene homolog
huntington disease protein homolog
Proteomics products related to Huntingtin Gene
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