NP_035942.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
fibulin-5
NCBI Official Synonym Full Names
fibulin 5
NCBI Protein Information
fibulin-5; FIBL-5; developmental arteries and neural crest EGF-like protein
UniProt Protein Name
Fibulin-5
UniProt Synonym Protein Names
Developmental arteries and neural crest EGF-like protein
UniProt Synonym Gene Names
UniProt Entry Name
FBLN5_MOUSE
UniProt Comments for FBLN5
FBLN5: Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be a vascular ligand for integrin receptors and may play a role in vascular development and remodeling. Defects in FBLN5 are the cause of cutis laxa, autosomal dominant, type 2 (ADCL2). A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. Defects in FBLN5 are a cause of cutis laxa, autosomal recessive, type 1A (ARCL1A). A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3). ARMD is a multifactorial disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Belongs to the fibulin family.
Protein type: Secreted, signal peptide; Secreted
Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; extracellular region
Molecular Function: integrin binding; protein C-terminus binding; protein homodimerization activity; calcium ion binding
Biological Process: elastic fiber assembly; extracellular matrix organization and biogenesis; secretion; cell adhesion
Research Articles on FBLN5
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Pathways associated with FBLN5 recombinant protein
Diseases associated with FBLN5 recombinant protein
Organs/Tissues associated with FBLN5 recombinant protein
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