LAMB2

Description

The LAMB2 (laminin subunit beta 2) is a protein-coding gene located on chromosome 3.

The LAMB2 gene in humans encodes laminin subunit beta-2, a protein that is a major component of basement membranes. Laminins are extracellular matrix glycoproteins that are involved in various biological processes, such as cell adhesion, differentiation, migration, signaling, neurite outgrowth, and metastasis. They are composed of three non-identical chains: laminin alpha, beta, and gamma. Each chain is a multidomain protein, and various isoforms of each chain exist. Different combinations of these isoforms form heterotrimeric laminin isoforms, which contribute to the diverse functions of laminins in different tissues.

LAMB2, encoding laminin subunit beta-2, plays a crucial role in embryonic development by facilitating cell attachment, migration, and tissue organization. This protein interacts with other extracellular matrix components, mediating these processes through its binding to cells via a high affinity receptor.

LAMB2 is also known as LAMS, NPHS5, PIERS.

Associated Diseases

• Synaptic congenital myasthenic syndromes
• Nephrotic syndrome, type 5, with or without ocular abnormalities
• Pierson syndrome