Aliases for LTBP1 Gene
External Ids for LTBP1 Gene
Previous GeneCards Identifiers for LTBP1 Gene
The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for LTBP1 Gene
LTBP1 (Latent Transforming Growth Factor Beta Binding Protein 1) is a Protein Coding gene. Diseases associated with LTBP1 include Geleophysic Dysplasia and Cadasil. Among its related pathways are p70S6K Signaling and ERK Signaling. GO annotations related to this gene include calcium ion binding and transforming growth factor beta binding. An important paralog of this gene is LTBP3.
UniProtKB/Swiss-Prot for LTBP1 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).