DISEASES

Disease-gene associations mined from literature

Literature associating FLNA and cleft palate

FLNA [ENSP00000358866]

Endothelial actin-binding protein; Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface- localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (By similarity).

Synonyms:  FLNA,  F8WE98,  FLJ00119,  H0Y5C6,  P21333 ...

Linkouts:  STRING  Pharos  UniProt  OMIM