Gene: LMX1B

Alternate names for this Gene: LMX1.2|NPS1

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q33.3

Description of this Gene: LIM homeobox transcription factor 1 beta

Type of Gene: protein-coding

rs10733682 in LMX1B gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 26604143 2016 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.

rs10760444 in LMX1B gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs945686 in LMX1B gene and Glaucoma PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs1536907 in LMX1B gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs16929203 in LMX1B gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs121909486 in LMX1B gene and Nail-Patella Syndrome PMID 11668639 2001 Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.

PMID 10571942 1999 Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

PMID 9837817 1998 Mutation analysis of LMX1B gene in nail-patella syndrome patients.

PMID 9618165 1998 Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

PMID 9590287 1998 Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

rs10760442 in LMX1B gene and Osteoarthritis of hip PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs10760442 in LMX1B gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.