Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol EMD contributors: mct/pgu - updated : 23-04-2020
HGNC name emerin
HGNC id 3331
ASSOCIATED DISORDERS
corresponding disease(s) EMD , ATFB13
related resource Emery-Dreifuss Muscular Dystrophy, EMD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional        
at the inner nuclear membrane leads to unprocessed (non-farnesylated) prelamin A aberrant localization only
tumoral     --over  
in Papillary thyroid carcinoma (PTC)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cardiovascularaquiredheart failure
emerin and the nuclear Ca2+ transient are possible therapeutic targets in heart failure and EMD
ANIMAL & CELL MODELS