Gene: LTBP4

Alternate names for this Gene: ARCL1C|LTBP-4|LTBP4L|LTBP4S

Gene Summary: The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: latent transforming growth factor beta binding protein 4

Type of Gene: protein-coding

rs34093919 in LTBP4 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs267607229 in LTBP4 gene and Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities PMID 19836010 2009 Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.

PMID 22829427 2013 Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

rs10410606 in LTBP4 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs34093919 in LTBP4 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.