Symbol: Name: ID: |
FBN3 fibrillin 3 GFS:7617 |
Gene name: | FBN3 |
Chromosome: | 19p13 |
Previous Symbols: | |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | Rat Genome Database ID: | ||
HGNC ID: | HGNC:18794 | RefSeq IDs: | NM_032447 |
Entrez Gene ID: | 84467 | Ensembl Gene ID: | ENSG00000142449 |
VEGA IDs: | UniProt ID: | Q75N90 | |
UCSC ID: | uc002mjf.2 | OMIM ID: | 608529 |
Pubmed: | |||
CCDS IDs: | CCDSCCDS12196.1 |
This gene encodes a protein that belongs to the fibrillin gene family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. While several transcript variants may exist for this gene, their full-length natures have not been described to date. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support.
Products for FBN3 gene
Catalog | Product Name | Application | Company |
GFS:E07617 | fibrillin 3; ELISA kit | ELISA | n/a |
GFS:A07617 | fibrillin 3; Anti | ANTIBODIES | n/a |
GFS:P07617 | fibrillin 3; Protien | Protien | n/a |