rs143807474
This variant is located in the LTBP1 gene.
▶ClinVar annotation
About LTBP1
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]
View all LTBP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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