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MIM.600024 1q42.1

Tuesday 30 September 2003

The nuclear envelope is composed of the nuclear lamina, the nuclear pore complexes, and the nuclear membranes.

- The nuclear lamina is a discontinuous structure that occupies only a fraction of the nuclear periphery, and at some points, the inner nuclear membrane may interact directly with the chromatin.

- The nuclear membranes can be divided into 3 morphologically distinct but interconnected domains: the outer nuclear membrane, the inner nuclear membrane, and the nuclear pore membrane.

  • The inner nuclear membrane is adjacent to the nuclear lamina, a meshwork of intermediate filament proteins termed lamins.
  • Several integral proteins of the nuclear envelope inner membrane that may be associated with the lamina and the chromatin have been identified. The first was a protein called lamin B receptor (LBR) that binds in vitro to lamin B.


- germline mutations of LBR gene in autosomal recessive Greenberg syndrome (hydrops-ectopic calcification- moth eaten skeletal dysplasia or HEM/Greenberg skeletal dysplasia)

  • causing 3 beta-hydroxysterol delta 14-reductase deficiency (12618959)

See also

- nuclear envelope

  • nuclear lamina
    • lamins
  • nuclear pore complexes
  • nuclear membranes