功能： disease:Defects in FBLN5 are a cause of autosomal dominant cutis laxa [MIM:123700]. Hereditary cutis laxa refers to a heterogeneous group of connective tissue disorders characterized by cutaneous abnormalities and variable systemic manifestations. The most constant clinical feature is loose skin, sagging over the face and trunk. Hereditary cutis laxa is inherited in both autosomal dominant and autosomal recessive modes. Autosomal dominant cutis laxa is a relatively benign inherited and acquired connective tissue disorder.,disease:Defects in FBLN5 are a cause of autosomal recessive cutis laxa type I (CL type I) [MIM:219100]. CL type I shows the most severe phenotype and has the poorest prognosis. In addition to the skin, internal organs enriched in elastic fibers, such as the lung and arteries, are affected.,disease:Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3) [MIM:608895]. 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.,function: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.,similarity:Belongs to the fibulin family.,similarity:Contains 6 EGF-like domains.,tissue specificity:Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted . Secreted, extracellular space, extracellular matrix . co-localizes with ELN in elastic fibers. .
组织表达： Expressed in skin fibroblasts (at protein level)(PubMed:17035250). Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes (PubMed:10428823).
功能： disease:Defects in FBLN5 are a cause of autosomal dominant cutis laxa [MIM:123700]. Hereditary cutis laxa refers to a heterogeneous group of connective tissue disorders characterized by cutaneous abnormalities and variable systemic manifestations. The most constant clinical feature is loose skin, sagging over the face and trunk. Hereditary cutis laxa is inherited in both autosomal dominant and autosomal recessive modes. Autosomal dominant cutis laxa is a relatively benign inherited and acquired connective tissue disorder.,disease:Defects in FBLN5 are a cause of autosomal recessive cutis laxa type I (CL type I) [MIM:219100]. CL type I shows the most severe phenotype and has the poorest prognosis. In addition to the skin, internal organs enriched in elastic fibers, such as the lung and arteries, are affected.,disease:Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3) [MIM:608895]. 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.,function: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.,similarity:Belongs to the fibulin family.,similarity:Contains 6 EGF-like domains.,tissue specificity:Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted . Secreted, extracellular space, extracellular matrix . co-localizes with ELN in elastic fibers. .
组织表达： Expressed in skin fibroblasts (at protein level)(PubMed:17035250). Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes (PubMed:10428823).
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