HGNC Approved Gene Symbol: MFAP3
Cytogenetic location: 5q33.2 Genomic coordinates (GRCh38): 5:154,038,967-154,057,450 (from NCBI)
Microfibrils of diameter 10-12 nm are found either in association with elastin (130160) or independently and are an important component of the extracellular matrix of many tissues. The proteins composing the microfibrils are distinct from elastin. The largest and possibly the most important of these are the fibrillins, 350-kD glycoproteins that form integral parts of the microfibril structure; see fibrillin-1 (FBN1; 134797). Another component of microfibrils is microfibrillar-associated protein-2 (MFAP2; 156790). Other proteins localized to the elastic fiber microfibrils include the enzyme lysyl oxidase (LOX; 153455) and microfibrillar-associated protein-1 (MFAP1; 600215). Abrams et al. (1995) cloned and characterized microfibrillar-associated protein-3 (MFAP3). Monospecific antibodies prepared against the recombinant expressed protein reacted with the microfibrils found in ocular zonules.
Abrams et al. (1995) localized the MFAP3 gene to chromosome 5q32-q33.3 by Southern analysis of a hybrid cell panel containing deletions or translocations involving chromosome 5. The location was near the locus 5q21-q31 reported for the fibrillin-2 gene (FBN2; 612570), but clearly mapped to a different region inasmuch as the FBN2 locus was not present in hybrid cells containing the MFAP3 gene.
Abrams, W. R., Ma, R.-I., Kucich, U., Bashir, M. M., Decker, S., Tsipouras, P., McPherson, J. D., Wasmuth, J. J., Rosenbloom, J. Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2. Genomics 26: 47-54, 1995. [PubMed: 7782085] [Full Text: https://doi.org/10.1016/0888-7543(95)80081-v]