| Gene Symbol | SYNE1 |
| Entrez Gene ID | 23345 |
| Full Name | spectrin repeat containing nuclear envelope protein 1 |
| Synonyms | 8B,ARCA1,C6orf98,CPG2,EDMD4,KASH1,MYNE1,Nesp1,SCAR8,dJ45H2.2 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | Spinocerebellar ataxia, autosomal recessive 8, 610743 (3); Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) |
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