FBLN1 [SEP] found in taxon
modules followed by a fibulin-type module, a module found in all members of the fibulin gene family.
The human fibulin-1 gene, FBLN1, encodes four splice variants designated fibulin-1A, B, C and D, which differ in their carboxy terminal regions. In mouse, chicken and the nematode, "C. elegans", only two fibulin-1 variants are produced, fibulin-1C and fibulin-1D.
Interactions.
FBLN1 has been shown to interact with:
- NOV/CCN3,
- amyloid precursor protein,
- entactin
about 187 protein coding genes in the 22q13 region. A group of genes ("MPPED1", "CYB5R3", "FBLN1", "NUP50", "C22ORF9", "KIAA1644", "PARVB", TRMU, "WNT7B" and "ATXN10"), as well as microRNAs may all contribute to loss of language, a feature that varies notably with deletion size. The same study found that macrocephaly seen in 22q13 deletion syndrome patients may be associated with "WNT7B". "FBLN1" is responsible