Gene: EMD

Alternate names for this Gene: EDMD|LEMD5|STA

Gene Summary: Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: emerin

Type of Gene: protein-coding

rs1557182214 in EMD gene and Flexion contracture - elbow PMID 8595433 1995 SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

rs727503036 in EMD gene and Neuromuscular Diseases PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

PMID 1998333 1991 Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.

PMID 1178008 1975 Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease.

PMID 10428430 1999 Mutation analysis in Emery-Dreifuss muscular dystrophy.

PMID 8595407 1995 Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

PMID 7294729 1981 Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.

PMID 18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

PMID 8595406 1995 Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.

PMID 17355552 2007 Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.

PMID 10220866 1999 Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.

rs1557182692 in EMD gene and Spinal rigidity PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

rs104894805 in EMD gene and X-Linked Emery-Dreifuss Muscular Dystrophy PMID 10323252 1999 Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

PMID 11587540 2001 How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?

PMID 15328537 2004 Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.

PMID 15009215 2004 Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.

PMID 8595433 1995 SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

PMID 8589715 1996 Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 15967842 2005 High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene.

PMID 21697856 2011 Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.

PMID 9195226 1997 Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.

PMID 8595407 1995 Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

PMID 10382909 1999 Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

PMID 7894480 1994 Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

PMID 19997654 2009 Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.

PMID 17620497 2007 Limb-girdle muscular dystrophy due to emerin gene mutations.