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

HGNC symbol: LMX1B
Aliases: NPS1; LMX1.2
Common name: LIM homeobox transcription factor 1 beta
Description: This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
OMIM: 602575
Ensembl: ENSG00000136944
UniProt/Swiss-Prot: B7ZLH2_HUMAN
Entrez Gene: 4010
UniGene: 129133
HapMap: View on HapMap

Sebastiani et al. (2012)