background:
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).
Function:
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).
Subunit:
Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with LTBP1 and TGFB1. Binds to FBN1 (By similarity).
Subcellular Location:
Secreted, extracellular space, extracellular matrix.
Tissue Specificity:
Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung.
Post-translational modifications:
Contains hydroxylated asparagine residues (By similarity).
DISEASE:
Defects in LTBP4 are the cause of Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]; also known as Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities. URDS is a syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles.
Similarity:
Belongs to the LTBP family.
Contains 16 EGF-like domains.
Contains 4 TB (TGF-beta binding) domains.
Database links:
UniProtKB/Swiss-Prot: Q8N2S1.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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