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- Table of Contents
Facts about Fibrillin-2.
Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. .
Human | |
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Gene Name: | FBN2 |
Uniprot: | P35556 |
Entrez: | 2201 |
Belongs to: |
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fibrillin family |
CCA; congenital contractural arachnodactyly; DA9; fibrillin 2; fibrillin 5; fibrillin-2
Mass (kDA):
314.775 kDA
Human | |
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Location: | 5q23.3 |
Sequence: | 5; NC_000005.10 (128257909..128538245, complement) |
Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and in the sclera. Not expressed in the neural retina.
Secreted, extracellular space, extracellular matrix.
PMID: 8120105 by Zhang H., et al. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.
PMID: 1852206 by Lee B., et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.