LongevityMap variant
Entry Details
- 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
- Identifier
- rs915179
- In Other Studies (IDs)
- 549
- Cytogenetic Location
- 1q22
- UCSC Genome Browser
- View 1q22 on the UCSC genome browser
Gene details
- HGNC symbol
- LMNA
- Aliases
- FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B
- Common name
- lamin A/C
- Description
- The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
- Other longevity studies of this gene
- 12
- OMIM
- 150330
- Ensembl
- ENSG00000160789
- UniProt/Swiss-Prot
- LMNA_HUMAN
- Entrez Gene
- 4000
- UniGene
- 594444
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- lmn-1
- Danio rerio
- lmna
- Drosophila melanogaster
- LamC
- Mus musculus
- Lmna
- Rattus norvegicus
- Lmna