ADAMTS like 4
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The ADAMTSL4 gene provides instructions for making a protein that is found throughout the body. The ADAMTSL4 protein is released from cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. The ADAMTSL4 protein binds to other proteins within the extracellular matrix. One of these proteins is called fibrillin-1. Fibrillin-1 proteins bind to each other and to other proteins to form threadlike filaments called microfibrils. Research suggests that ADAMTSL4 binds to fibrillin-1 to promote microfibril assembly in many tissues. Within the eyes, microfibrils form small bundles called zonular fibers that hold the lenses of the eyes in their central position. The lens is a clear structure at the front of the eye that helps focus light.
Normal function
The ADAMTSL4 gene provides instructions for making a protein that is found throughout the body. The ADAMTSL4 protein is released from cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. The ADAMTSL4 protein binds to other proteins within the extracellular matrix. One of these proteins is called fibrillin-1. Fibrillin-1 proteins bind to each other and to other proteins to form threadlike filaments called microfibrils. Research suggests that ADAMTSL4 binds to fibrillin-1 to promote microfibril assembly in many tissues. Within the eyes, microfibrils form small bundles called zonular fibers that hold the lenses of the eyes in their central position. The lens is a clear structure at the front of the eye that helps focus light.
Conditions referring to this gene or chromosome
Other names
DKFZP434K1772
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Leitura adicional e referências
- ADAMTS like 4; MedlinePlus, National Library of Medicine.
- Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874.
- Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rodahl E. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6369-73. doi: 10.1167/iovs.10-5597. Epub 2010 Aug 11.
- Gabriel LA, Wang LW, Bader H, Ho JC, Majors AK, Hollyfield JG, Traboulsi EI, Apte SS. ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. Invest Ophthalmol Vis Sci. 2012 Jan 31;53(1):461-9. doi: 10.1167/iovs.10-5955.
- Hubmacher D, Apte SS. Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function. Cell Mol Life Sci. 2011 Oct;68(19):3137-48. doi: 10.1007/s00018-011-0780-9. Epub 2011 Aug 20.
- Rodahl E, Mellgren AEC, Boonstra NE, Knappskog PM. ADAMTSL4-Related Eye Disorders. 2012 Feb 16 [updated 2020 Jul 9]. 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/NBK84111/
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