rs2289385
This variant is located in the MFAP5 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout MFAP5
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]
View all MFAP5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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