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Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.
The huntingtin gene provides the genetic information for huntingtin protein (Htt). [1] Expansion of CAG repeats of cytosine-adenine-guanine (known as a trinucleotide repeat expansion) in the gene coding for the huntingtin protein results in an abnormal mutant protein (mHtt), which gradually damages brain cells through a number of possible ...
Huntingtin-associated protein 1 (HAP1) is a protein which in humans is encoded by the HAP1 gene. [1] [2] This protein was found to bind to the mutant huntingtin protein (mHtt) in proportion to the number of glutamines present in the glutamine repeat region.
Huntingtin-interacting protein 1 also known as HIP-1 is a protein that in humans is encoded by the HIP1 gene.. Hip-1 is a protein that interacts with the huntingtin protein. It is known to contain a domain homologous to the death effector domains (DED) found on proteins involved in apoptosis.
Crystallographic structure of the N-terminal region of the human huntingtin protein. Huntington's disease (HD) results from a mutation in the huntingtin gene that causes an excess of CAG repeats. [63] The gene then forms a mutated huntingtin protein with polyglutamine repeats near the amino terminus. [64]
In Huntington's disease, it is huntingtin. [75] Transglutaminase substrates: Amyloid-beta, tau, alpha-synuclein and huntingtin have been proved to be substrates of transglutaminases in vitro or in vivo, that is, they can be bonded by trasglutaminases by covalent bonds to each other and potentially to any other transglutaminase substrate in the ...
29816 Ensembl ENSG00000130787 ENSMUSG00000000915 UniProt O75146 Q9JKY5 RefSeq (mRNA) NM_001303097 NM_001303099 NM_003959 NM_145070 RefSeq (protein) NP_001290026 NP_001290028 NP_003950 NP_659507 Location (UCSC) Chr 12: 122.83 – 122.86 Mb Chr 5: 124.11 – 124.14 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Huntingtin-interacting protein 1-related protein is a protein that in ...
235626 Ensembl ENSG00000181555 ENSMUSG00000044791 UniProt Q9BYW2 E9Q5F9 RefSeq (mRNA) NM_012271 NM_014159 NM_001349370 NM_001081340 RefSeq (protein) NP_054878 NP_001336299 NP_001074809 Location (UCSC) Chr 3: 47.02 – 47.16 Mb Chr 9: 110.53 – 110.62 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene ...