fbn1 | Fibrillin-1

Keyword	CPC	PCC	Volume	Score	Length of keyword
fbn1	0.39	0.5	1867	51	4

Keyword	CPC	PCC	Volume	Score
fbn1	0.61	0.7	452	26
fbn1 gene	0.89	0.3	3030	28
fbn1 sap	0.52	0.7	9644	36
fbn1 mutation	1.6	0.2	161	2
fbn1 gene marfan syndrome	0.95	0.4	3604	37
fbn1 omim	1.74	0.7	1637	41
fbn100b	1.11	0.3	7475	28
fbn1 tcode in sap	1.87	0.8	6789	3
fbn1 gene mutation	1.85	0.2	6172	59
fbn1 table in sap	0.08	0.1	8166	78
fbn1 gene reviews	1.95	0.6	8471	9
fbn1基因	1	0.2	1396	84
fbn1遺伝子	1.58	0.6	4207	64

Search Results related to fbn1 on Search Engine

Fibrillin-1 - Wikipedia
wikipedia.org

https://en.wikipedia.org/wiki/Fibrillin-1

WebFBN1 is a 230-kb gene with 65 coding exons that encode a 2,871-amino-acid long proprotein called profibrillin which is proteolytically cleaved near its C-terminus by the enzyme furin convertase to give fibrillin-1, a member of the fibrillin family, and the 140-amino-acid long protein hormone asprosin. [7] [8]

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FBN1 gene: MedlinePlus Genetics
medlineplus.gov

https://medlineplus.gov/genetics/gene/fbn1/

WebThe FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.

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Marfan Syndrome - Causes | NHLBI, NIH - National Institutes of Health
nih.gov

https://www.nhlbi.nih.gov/health/marfan-syndrome/causes

WebMar 24, 2022 · The FBN1 gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue to support your bones, muscles, and organs. Fibrillin-1 also affects levels of another protein that helps control how you grow. Most people who have Marfan syndrome get it from their parents.

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FBN1 Gene - GeneCards | FBN1 Protein | FBN1 Antibody
genecards.org

https://www.genecards.org/cgi-bin/carddisp.pl?gene=FBN1

WebJan 10, 2023 · FBN1 (Fibrillin 1) is a Protein Coding gene. Diseases associated with FBN1 include Marfan Syndrome and Stiff Skin Syndrome. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent.

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FBN1: The disease-causing gene for Marfan syndrome and other genetic
nih.gov

https://pubmed.ncbi.nlm.nih.gov/27437668/

WebOct 10, 2016 · FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection.

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About Marfan Syndrome - Genome.gov
genome.gov

https://www.genome.gov/Genetic-Disorders/Marfan-Syndrome

WebMay 30, 2017 · The FBN1 gene is the gene associated with the true Marfan syndrome. Genetic testing of the FBN1 gene identifies 70 - 93 percent of the mutations and is available in clinical laboratories. However patients negative for the test for gene mutation should be considered for evaluation for other conditions that have similar features of Marfan ...

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Marfan syndrome: MedlinePlus Genetics
medlineplus.gov

https://medlineplus.gov/genetics/condition/marfan-syndrome/

WebMarfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

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FBN1 fibrillin 1 - NIH Genetic Testing Registry (GTR) - NCBI
nih.gov

https://www.ncbi.nlm.nih.gov/gtr/genes/2200/

WebFeb 26, 2023 · Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis.

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FBN1 - an overview | ScienceDirect Topics
sciencedirect.com

https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/fbn1

WebFBN1 is the only gene associated with MFS, and the gene testing is highly sensitive. A wide variety of pathogenic FBN1 variants have been described, including missense, nonsense, frameshift, splice site, and small insertion/deletion changes [1]. About 75% of cases are inherited from an affected parent with the remaining 25% arising de novo [1].

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National Center for Biotechnology Information
nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639799/

WebOct 10, 2016 · FBN1is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia …

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