SYNE1, Official Symbol SYNE1provided by HGNC Official Full Name spectrin repeat containing nuclear envelope protein 1provided by HGNC Primary source HGNC:HGNC:17089 See related Ensembl:ENSG00000131018 MIM:608441; AllianceGenome:HGNC:17089 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 8B; AMC3; AMCM; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2 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] Expression Ubiquitous expression in ovary (RPKM 11.9), bone marrow (RPKM 8.2) and 24 other tissues See more Orthologs mouse all