Huntingtin Rabbit mAb (AMR12726N)

• 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. [provided by RefSeq, Jul 2016]

• Synonyms:

  HD; IT15; HTT; Huntingtin

• Gene ID:

  3064

• UniProt:

  P42858

• Cellular Locus:

  Cytoplasm, Nucleus

• Dilution:

  WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200

• Form:

  Liquid

• Buffer:

  Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.

• Molecular Weight:

  Calculated MW: 348kDa Observed MW: 350kDa

• Storage Conditions:

  Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

• Overview:

  We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality Huntingtin Rabbit mAb (APR24450N4) .

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3064

• Uniprot URL:

  https://www.uniprot.org/uniprot/P42858

• AA Sequence:

  Email for sequence