Aliases for MFAP5 Gene
External Ids for MFAP5 Gene
Previous GeneCards Identifiers for MFAP5 Gene
This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
GeneCards Summary for MFAP5 Gene
MFAP5 (Microfibril Associated Protein 5) is a Protein Coding gene. Diseases associated with MFAP5 include Aortic Aneurysm, Familial Thoracic 9 and Familial Thoracic Aortic Aneurysm And Dissection. Among its related pathways are Notch Signaling Pathway (WikiPathways) and MFAP5-mediated ovarian cancer cell motility and invasiveness. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is MFAP2.
UniProtKB/Swiss-Prot Summary for MFAP5 Gene
May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636).