E

Emerin

A protein found in the nuclear membrane of muscle cells. Emerin is absent in individuals with the X-linked recessive form of Emery-Dreifuss muscular dystrophy.

Emery-Dreifuss muscular dystrophy

A genetic disorder characterised by muscle wasting and contractures. The heart may also be affected. Emery-Dreifuss muscular dystrophy 1 is associated with mutations in the emerin gene; Emery-Dreifuss muscular dystrophy 2 is linked to mutations in the lamin A/C gene.

Enzyme

A protein which responsible for chemical reactions.

Exon

The part of a gene which codes for the production of the gene product or protein.