Emd Gene Search Result

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3 records found for search term Emd

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
735605	EMD	emerin	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. [provided by ... (more) RefSeq, Jul 2008]	X	154379295	154381523	Human	383	symbol , COSMIC , Human Proteome Map , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
732790	LMNA	lamin A/C	The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the ... (more) lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]	1	156082573	156140081	Human	4696	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1347348	ADAM28	ADAM metallopeptidase domain 28	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interact ... (more) ions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	8	24294069	24359014	Human	98	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]