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 with severe pulmonary, gastrointestinal and urinary anomalies. Among its related pathways are NF-KappaB Family Pathway and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include calcium ion binding and glycosaminoglycan binding. An important paralog of this gene is LTBP3.
UniProtKB/Swiss-Prot for LTBP4 Gene
May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM) (By similarity).