Through alternative splicing, this gene encodes several distinct LEM domain containing protein isoforms. LEM domain proteins include inner nuclear membrane and intranuclear proteins, and are involved in a variety of cellular functions including gene expression, chromatin organization, and replication and cell cycle control. The encoded alpha isoform is broadly diffuse in the nucleus and contains a lamin binding domain, while the beta and gamma isoforms are localized to the nuclear membrane and contain an HDAC3 interaction domain. The distinct isoforms may compete with each other when acting to chaperone other proteins and regulate transcription. [provided by RefSeq, Aug 2019]
- Regulation of transcription, DNA-templated
- Familial isolated dilated cardiomyopathy
- Dilated cardiomyopathy
- Dilated cardiomyopathy 1t
- Emery-dreifuss muscular dystrophy
- Loeys-dietz syndrome 2