Filamin

Filamin
Cat. No.
BT1686
Source
Chicken Gizzard.
Synonyms
Appearance
Sterile Filtered White lyophilized (freeze-dried) powder.
Purity
Greater than 90.0% as determined by SDS-PAGE.
Usage

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Description

Ultra Pure Filamin having a Molecular mass of 250 kDa.

Product Specs

Introduction
Filamin, a large dimeric actin crosslinking protein (270 kDa), plays a crucial role in stabilizing the three-dimensional cortical actin network across various organisms. Its structure is highly conserved, featuring an actin-binding domain at the N-terminus and a C-terminal rod domain composed of repetitive segments. The number of repeats in the rod domain varies, ranging from four in C. elegans to 24 in mammals. Each repeat, approximately 100 residues long, forms an immunoglobulin-like fold, a structural motif commonly found in proteins involved in protein-protein interactions. In mammals, filamin, also known as actin-binding protein (ABP), crosslinks actin filaments to create orthogonal networks within the cortical cytoplasm. It also participates in anchoring membrane proteins to the actin cytoskeleton. Mammalian filamin interacts with over 30 different proteins, including transmembrane receptors, signaling pathway components, protein kinases, phosphatases, and cytoskeletal proteins. These interactions often require one or more repeat elements within the rod domain.
Description
Ultra Pure Filamin with a molecular weight of 250 kDa.
Physical Appearance
Sterile filtered white powder, lyophilized (freeze-dried).
Formulation
The protein was lyophilized from a solution containing 1 mg/ml protein, 20 mM Tris/acetate buffer (pH 7.6), 0.1 mM EDTA, 2 mM DTT, 9 M urea, and 20 mM NaCl.
Solubility
For reconstitution, dissolve the lyophilized Filamin protein in water to a final concentration of 0.5 mg/ml.
Stability
Lyophilized Filamin is stable at room temperature for up to three weeks. However, for extended storage, it is recommended to store desiccated below -18°C. Reconstituted Filamin should be stored at 4°C for 2-7 days or frozen below -18°C for long-term storage. Adding a carrier protein like HSA or BSA (0.1%) is recommended for long-term storage. Avoid repeated freeze-thaw cycles.
Purity
Purity greater than 90% as determined by SDS-PAGE analysis.
Source
Chicken Gizzard.

Product Science Overview

Structure

Filamin proteins are composed of an actin-binding domain at their N-terminus, followed by 24 immunoglobulin-like repeat modules, each consisting of approximately 95 amino acids . These repeats are interspersed with two hinge regions, located between repeats 15-16 and 23-24 . The hinge regions allow for the cleavage of filamin into smaller fragments, which can then participate in different cellular functions.

Types of Filamin

There are three main types of filamin proteins in mammals:

  1. Filamin A (FLNA): This protein is involved in various cellular processes, including the stabilization of the actin cytoskeleton and the anchoring of membrane proteins . FLNA plays a significant role in the cardiovascular system, particularly in platelet function and wound repair . Mutations in the FLNA gene can lead to conditions such as macrothrombocytopenia, which affects the production of giant platelets necessary for healing .

  2. Filamin B (FLNB): Similar to FLNA, FLNB is involved in the organization of the actin cytoskeleton and the regulation of cell shape and migration. It also plays a role in skeletal development and has been implicated in various skeletal disorders.

  3. Filamin C (FLNC): This protein is primarily found in cardiac and skeletal muscle tissues . FLNC contributes to the structure of cardiac muscle by being a part of the Z-disk proteins, which are abundant in both cardiac and skeletal muscle tissues . Mutations in the FLNC gene can lead to cardiomyopathies, such as hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) .

Functions

Filamins serve multiple functions within the cell:

  • Actin Crosslinking: Filamins crosslink actin filaments into orthogonal networks, providing structural support to the cell .
  • Signal Transduction: They act as scaffolds for various signaling proteins, including tyrosine kinases, GTPases, and phosphatases . This allows them to connect adhesive receptors, such as integrins, to signaling pathways and the cytoskeleton .
  • Cell Migration: By remodeling the actin cytoskeleton, filamins facilitate cell migration, which is essential for processes like wound healing and immune responses .
Clinical Significance

Mutations in filamin genes can lead to various diseases and disorders:

  • Cardiomyopathies: Mutations in the FLNC gene are associated with cardiomyopathies, which can affect the heart’s ability to pump blood effectively .
  • Skeletal Disorders: FLNB mutations can result in skeletal abnormalities and developmental disorders.
  • Platelet Function: FLNA mutations can disrupt platelet function, leading to conditions like macrothrombocytopenia .

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