Gene Symbol | MFAP5 |
Entrez Gene ID | 8076 |
Full Name | microfibril associated protein 5 |
Synonyms | AAT9,MAGP-2,MAGP2,MFAP-5,MP25 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Aortic aneurysm, familial thoracic 9, 616166 (3) |