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- Table of Contents
Facts about Fibrillin-1.
In tissues like the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. Additionally, microfibrils can happen as elastin-independent networks in tissues like the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring functions.
Human | |
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Gene Name: | FBN1 |
Uniprot: | P35555 |
Entrez: | 2200 |
Belongs to: |
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fibrillin family |
ACMICD; Asprosin; FBN; FBN1; fibrillin 1 (Marfan syndrome); Fibrillin 1; fibrillin 15; fibrillin-1; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2
Mass (kDA):
312.298 kDA
Human | |
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Location: | 15q21.1 |
Sequence: | 15; NC_000015.10 (48408313..48645709, complement) |
Secreted. Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).; [Asprosin]: Secreted. Secreted into the plasma.; [Fibrillin-1]: Secreted, extracellular space, extracellular matrix.
PMID: 8364578 by Pereira L.V., et al. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
PMID: 15221638 by Uyeda T., et al. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.