LongevityMap Gene
Gene details
- HGNC symbol
- SYNE1
- Aliases
- 8B; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2
- Common name
- spectrin repeat containing nuclear envelope protein 1
- Description
- 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]
- Cytogenetic Location
- 6q25.2
- UCSC Genome Browser
- View 6q25.2 on the UCSC genome browser
- OMIM
- 608441
- Ensembl
- ENSG00000131018
- UniProt/Swiss-Prot
- A0A0C4DG40_HUMAN
- Entrez Gene
- 23345
- UniGene
- 12967
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- M116.5
- Caenorhabditis elegans
- D2096.11
- Danio rerio
- syne1b
- Danio rerio
- syne1a
- Mus musculus
- Syne1
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs9397084
- Reference