gene: SYNE1
| id | 23345 |
|---|---|
| symbol | SYNE1 |
| organism | Homo sapiens |
| full name | spectrin repeat containing nuclear envelope protein 1 |
| 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] |
| variant-disease |
NM_033071.3(SYNE1):c.16177-2A>G AND Spinocerebellar ataxia, autosomal recessive 8 NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) AND not specified NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) AND not specified NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) AND not specified ... 3567 more |
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