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(Redirected from EMD (muscular dystrophy))
'Emerin', together with MAN1, is a LEM domain-containing integral membrane protein of the nuclear envelope in vertebrates. The function of MAN1 is not extensively known, but emerin is known to interact with nuclear lamins, barrier-to-autointegration factor (BAF), nesprin-1alpha , and a transcription repressor.
Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy.
Moreover, recent research have found that the absence of functional emerin may decrease the infectivity of HIV-1. Thus, it is speculated that patients suffering from Emery-Dreifuss muscular dystrophy may have immunity to or show an irregular infection pattern to HIV-1[1].
1. Jacque JM, Stevenson M.: "The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.", ''Nature.'', 2006 Jun 1;441(7093):581-2.
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'Emerin', together with MAN1, is a LEM domain-containing integral membrane protein of the nuclear envelope in vertebrates. The function of MAN1 is not extensively known, but emerin is known to interact with nuclear lamins, barrier-to-autointegration factor (BAF), nesprin-1alpha , and a transcription repressor.
| Contents |
| Clinical significance |
| Sources |
| External links |
Clinical significance
Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy.
Moreover, recent research have found that the absence of functional emerin may decrease the infectivity of HIV-1. Thus, it is speculated that patients suffering from Emery-Dreifuss muscular dystrophy may have immunity to or show an irregular infection pattern to HIV-1[1].
Sources
1. Jacque JM, Stevenson M.: "The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.", ''Nature.'', 2006 Jun 1;441(7093):581-2.
External links
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