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 (Microfibrillar Associated Protein 5) is a Protein Coding gene. Diseases associated with MFAP5 include aortic aneurysm, familial thoracic 9 and mfap5-related thoracic aortic aneurysms and aortic dissections. Among its related pathways are Notch Signaling Pathways and Elastic fibre formation. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is MFAP2.
UniProtKB/Swiss-Prot 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).