Huntingtin: Difference between revisions

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==Huntingtin protein==

'''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.

'''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 tract found within the N-terminal region of the perspective protein. Such pathological growth, which surpasses the treshold of 36 glutamine repeats, is the cause of Huntigton 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.

Huntingtin: Difference between revisions

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 ==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=''>
-'''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.
+'''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 tract found within the N-terminal region of the perspective protein. Such pathological growth, which surpasses the treshold of 36 glutamine repeats, is the cause of Huntigton 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.