fibrillin 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEhlers Danlos syndrome with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPneumothorax - familial
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSevere insulin resistance and lipodystrophy syndromes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+6 more panels — install the extension to see the full list inline on any page.
Marfan syndrome
ectopia lentis 1, isolated, autosomal dominant
Acromicric dysplasia
geleophysic dysplasia 2
stiff skin syndrome
progeroid and marfanoid aspect-lipodystrophy syndrome
Weill-Marchesani syndrome 2, dominant
MASS syndrome
aortic aneurysm
familial thoracic aortic aneurysm and aortic dissection
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Fibrillin-1
Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:15062093, PubMed:1860873). Fibrillin-1-containing microfibrils provide long-term force bearing structural support (PubMed:27026396). In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin (PubMed:27026396). In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles (PubMed:27026396). Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11 (PubMed:24039232). This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921)
Curated MONDO disease pages that list FBN1 among their top associated genes.
FBN1 · P35555
Mean pLDDT
Not published
AlphaFold has not published a prediction for this sequence. This is common for very long proteins.
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
