latent TGF-beta binding protein 3 (LTBP-3)

Function

• may be involved in the assembly, secretion & targeting of TGFB1 to sites at which it is stored &/or activated
• may play role in controlling & directing the activity of TGFB1
• may have a structural role in the extracellular matrix
• contains hydroxylated Asn (putative)
• 2 intrachain disulfide bonds from the TB3 domain are rearranged upon TGFB1 binding, & form interchain bonds with TGFB1 propeptide, anchoring it to the extracellular matrix
• forms part of the large latent TGF beta precursor complex
  • removal is required for activation of the complex

Structure

• belongs to the LTBP family
• contains 13 EGF-like domains
• contains 4 TB (TGF-beta binding) domains

Compartment

• secreted (putative)
• secretion occurs after coexpression with TGFB1 & requires complexing with Cys-33 of the TGFB1 propeptide (putative)

Alternative splicing

named isoforms=2

Expression

• isoform 1 is strongly expressed in pancreas & liver
• isoform 2 is expressed prominently in heart, skeletal muscle, prostate, testis, small intestine & ovary

Pathology

• defects in LTBP3 are the cause of tooth agenesis selective type 6e

More general terms

• latent TGF-beta binding protein (LTBP)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4054
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4054
• OMIM: https://mirror.omim.org/entry/602090
• OMIM: https://mirror.omim.org/entry/613097
• UniProt: http://www.uniprot.org/uniprot/Q9NS15.html