emerin (EMD, EDMD, STA)

Function

• mediates membrane anchorage to cytoskeleton
• interact with lamin A & lamin C
• binds to transcriptional repressor GCL

Structure

contains 1 LEM domain

Pathology

• mutations associated with Emery-Dreifuss muscular dystrophy

More general terms

• LEM domain-containing protein (LEMD)
• membrane protein
• nuclear protein
• phosphoprotein

Additional terms

• Emery-Dreifuss muscular dystrophy

Database

• UniProt: http://www.uniprot.org/uniprot/P50402.html
• OMIM: https://mirror.omim.org/entry/300384
• OMIM: https://mirror.omim.org/entry/310300
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2010