Gene Symbol | SYNE2 |
Entrez Gene ID | 23224 |
Full Name | spectrin repeat containing nuclear envelope protein 2 |
Synonyms | EDMD5,KASH2,NUA,NUANCE,Nesp2,Nesprin-2,SYNE-2,TROPH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3) |