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

Danio rerio
syne1b
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