Huntingtin: Difference between revisions
From Proteopedia
Jump to navigationJump to search
Ivan Šonský (talk | contribs) No edit summary |
Ivan Šonský (talk | contribs) No edit summary |
||
| Line 1: | Line 1: | ||
==Huntingtin protein== | ==Huntingtin protein== | ||
<StructureSection load='2ld0' size='340' side='right' caption='NMR solution structure of the N-terminal domain of huntingtin (htt17) in 50 % TFE' scene=''> | <StructureSection load='2ld0' size='340' side='right' caption='NMR solution structure of the N-terminal domain of huntingtin (htt17) in 50 % TFE' scene=''> | ||
'''Huntingtin''' (HTT) is a large (350 kDa) protein essential for embryonic development and is involved in a variety of cellular functions, such as vesicular transport, endocytosis, transcription regulation and autophagy. Mutation in the associated gene results in an expansion of the polyQ domain and is the cause of Huntington disease. | '''Huntingtin''' (HTT) is a large (350 kDa) protein essential for embryonic development and is involved in a variety of cellular functions, such as vesicular transport, endocytosis, transcription regulation and autophagy. Mutation in the associated gene - IT15 - results in an expansion of the polyQ domain and is the cause of Huntington disease. | ||
You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue. | You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue. | ||
