FLNB : filamin B

Description

The FLNB (filamin B) is a protein-coding gene located on chromosome 3.

The FLNB gene provides instructions for making filamin B protein, which helps build the cytoskeleton, the network of protein filaments that gives cells their structure and allows them to move and change shape. Filamin B binds to actin, helping it form the branching network of filaments in the cytoskeleton. It also connects actin to other proteins to carry out various cellular functions, including cell signaling that directs cytoskeleton changes during tissue growth and development. FLNB plays a role in skeletal development before birth. It is active in many cells and tissues, including chondrocytes, which produce cartilage, a tough, flexible tissue that makes up much of the skeleton early in development. Most cartilage is later converted to bone (ossification), except for the cartilage that continues to protect the ends of bones and is found in the nose, airways, and external ears. FLNB is believed to be essential for normal chondrocyte growth, division, and maturation, as well as for the ossification of cartilage.

FLNB protein connects cell membrane components to the actin cytoskeleton. It might facilitate the formation of branches in actin filaments at right angles, and links these filaments to membrane glycoproteins. FLNB anchors a range of transmembrane proteins to the actin cytoskeleton. Its interaction with FLNA could play a role in the movement of neuroblasts from the ventricular zone to the cortical plate. Different isoforms of FLNB have varying interactions and cellular locations, which influence the structure and formation of myotubes and muscle development. Isoform 6 accelerates muscle differentiation in laboratory settings.

FLNB is also known as ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing