latent transforming growth factor beta binding protein 4
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The LTBP4 gene provides instructions for making a protein that has multiple functions in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. The LTBP4 protein controls the activity of a protein called transforming growth factor beta-1 (TGFβ-1) by attaching it to the extracellular matrix. This growth factor is turned off (inactivated) when stored in the extracellular matrix and turned on (activated) when released. When turned on, the TGFβ-1 protein triggers chemical signals that direct the functions of the body's cells during growth and development and that regulate the formation of the extracellular matrix.
Normal function
The LTBP4 gene provides instructions for making a protein that has multiple functions in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. The LTBP4 protein controls the activity of a protein called transforming growth factor beta-1 (TGFβ-1) by attaching it to the extracellular matrix. This growth factor is turned off (inactivated) when stored in the extracellular matrix and turned on (activated) when released. When turned on, the TGFβ-1 protein triggers chemical signals that direct the functions of the body's cells during growth and development and that regulate the formation of the extracellular matrix.
The LTBP4 protein also plays a critical role in the formation of elastic fibers in the extracellular matrix. Elastic fibers are slender bundles of proteins that provide strength and flexibility to connective tissue, which supports organs and tissues such as the skin, lungs, heart, ligaments, and blood vessels.
Conditions referring to this gene or chromosome
Otros nombres
FLJ46318
FLJ90018
LTBP-4
LTBP-4L
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Lecturas adicionales y referencias
- latent transforming growth factor beta binding protein 4; MedlinePlus, National Library of Medicine.
- Callewaert BL, Urban Z. LTBP4-Related Cutis Laxa. 2016 Feb 11 [updated 2023 Feb 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK343782/
- Dabovic B, Chen Y, Choi J, Vassallo M, Dietz HC, Ramirez F, von Melchner H, Davis EC, Rifkin DB. Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity. J Cell Physiol. 2009 Apr;219(1):14-22. doi: 10.1002/jcp.21643.
- Noda K, Dabovic B, Takagi K, Inoue T, Horiguchi M, Hirai M, Fujikawa Y, Akama TO, Kusumoto K, Zilberberg L, Sakai LY, Koli K, Naitoh M, von Melchner H, Suzuki S, Rifkin DB, Nakamura T. Latent TGF-beta binding protein 4 promotes elastic fiber assembly by interacting with fibulin-5. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):2852-7. doi: 10.1073/pnas.1215779110. Epub 2013 Feb 4.
- Urban Z, Hucthagowder V, Schurmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet. 2009 Nov;85(5):593-605. doi: 10.1016/j.ajhg.2009.09.013. Epub 2009 Oct 15.
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