LongevityMap Gene

Gene details

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]
Cytogenetic Location: 9q33.3
UCSC Genome Browser: View 9q33.3 on the UCSC genome browser
OMIM: 602575
Ensembl: ENSG00000136944
UniProt/Swiss-Prot: B7ZLH2_HUMAN
Entrez Gene: 4010
UniGene: 129133
1000 Genomes: 1000 Genomes

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

rs3906146

Reference