Rabbit anti-Human Phospho-Huntingtin-S421 Monoclonal Antibody

Uniprot Id

P42858

Target Species

Human

Target Name

HTT

Target Full Name

Huntingtin

Target Function

May play a role in microtubule-mediated transport or vesicle function.; Promotes the formation of autophagic vesicles.

Target Involvement

Huntington disease (HD); Lopes-Maciel-Rodan syndrome (LOMARS)

Target Subcellular Location

[Huntingtin]: Cytoplasm. Nucleus. Early endosome.; [Huntingtin, myristoylated N-terminal fragment]: Cytoplasmic vesicle, autophagosome.

Target Protein Families

Huntingtin family

Target Tissue Specificity

Expressed in the brain cortex (at protein level). Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neo

Target Synonyms

AI256365; C430023I11Rik; HD; HD protein; HD_HUMAN; HDH; HTT; Huntingtin; HUNTINGTON CHOREA; Huntington disease protein; Huntington's disease protein homolog; IT 15; IT15; OTTMUSP00000026909; ZHD

Target Background

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 of trinucleotide repeats (9-35) 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.