| Entrez Gene ID |
23345 |
| Official Gene Symbol |
SYNE1 (GeneCards) |
| Full name |
spectrin repeat containing nuclear envelope protein 1 |
| Location |
6q25.2 |
| Other ids |
Vega : OTTHUMG00000015841
MIM : 608441
HGNC : HGNC:17089
Ensembl : ENSG00000131018
|
| Other names |
8B,
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] |