Disease-gene associations mined from literature

Literature associating FBLN1 and syndactyly

FBLN1 [ENSP00000331544]

Fibulin 1; Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP; Belongs to the fibulin family.

Synonyms:  FBLN1,  FBLN1p,  hFBLN1,  B1AHL2,  B1AHM4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM