Entity Details

Primary name MFAP5
Entity type gene
Source Source Link

Details

PrimaryID8076
RefseqGeneNG_041814
SymbolMFAP5
Namemicrofibril associated protein 5
Chromosome12
Location12p13.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMFAP5_HUMAN

GO terms

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GOName
GO:0001527 microfibril
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0030198 extracellular matrix organization
GO:0048048 embryonic eye morphogenesis
GO:0060216 definitive hemopoiesis
GO:0062023 collagen-containing extracellular matrix
GO:0097435 supramolecular fiber organization

Diseases

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Disease IDSourceNameDescription
616166 OMIMAortic aneurysm, familial thoracic 9 (AAT9)A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
MFAP5FBN2HPRD12122015 details
MFAP5MEGF6HPRD12122015 details
MFAP5FBLN1HPRD12122015 details
MFAP5FBN1HPRD12122015 details