Aliases for LTBP4 Gene
External Ids for LTBP4 Gene
Previous GeneCards Identifiers for LTBP4 Gene
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.[provided by RefSeq, May 2010]
GeneCards Summary for LTBP4 Gene
LTBP4 (Latent Transforming Growth Factor Beta Binding Protein 4) is a Protein Coding gene. Diseases associated with LTBP4 include Cutis Laxa, Autosomal Recessive, Type Ic and Cutis Laxa. Among its related pathways are ERK Signaling and TGF-Beta Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and glycosaminoglycan binding. An important paralog of this gene is LTBP2.
UniProtKB/Swiss-Prot Summary for LTBP4 Gene
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.