Gene: LTBP3

Alternate names for this Gene: DASS|GPHYSD3|LTBP-3|LTBP2|STHAG6|pp6425

Gene Summary: The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: latent transforming growth factor beta binding protein 3

Type of Gene: protein-coding

rs1554974135 in LTBP3 gene and GELEOPHYSIC DYSPLASIA 3 PMID 27068007 2016 Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

rs58621819 in LTBP3 gene and Major Depressive Disorder PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

rs10896015 in LTBP3 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.