GENETIC ENCYCLOPEDIA
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gene: SYNE1

id23345
symbolSYNE1
organismHomo sapiens
full namespectrin repeat containing nuclear envelope protein 1
summaryThis 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.24284G>A (p.Arg8095His) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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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