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- Table of Contents
Facts about Fibrillin-3.
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Human | |
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Gene Name: | FBN3 |
Uniprot: | Q75N90 |
Entrez: | 84467 |
Belongs to: |
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fibrillin family |
fibrillin 3; fibrillin-3
Mass (kDA):
300.356 kDA
Human | |
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Location: | 19p13.2 |
Sequence: | 19; NC_000019.10 (8065402..8149592, complement) |
Predominantly expressed in connective tissues such as skeletal muscle, tendon, skin, perichondrium and periosteum. Highly expressed in fetal lung, brain, kidney. Expressed at low level in prostate, testis, mammary gland, uterus, ovary, placenta, bladder, adrenal gland, thyroid, fetal thymus, fetal liver, liver, fetal heart and heart.
Secreted, extracellular space, extracellular matrix.
PMID: 14962672 by Corson G.M., et al. Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues.
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.