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

Homologs in model organisms

Danio rerio
lmx1bb
Drosophila melanogaster
CG4328-RA
Mus musculus
Lmx1b
Rattus norvegicus
Lmx1b

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
rs3906146
Reference