LAMA5


Description

The LAMA5 (laminin subunit alpha 5) is a protein-coding gene located on chromosome 20.

Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene in humans. Laminins, a family of heterotrimeric extracellular glycoproteins, are crucial for tissue development and integrity in various organs, including the kidney, lung, skin, and nervous system. These proteins are thought to mediate cell attachment, migration, and tissue organization during embryonic development by interacting with other extracellular matrix components. Laminins exist as heterotrimeric complexes comprising alpha, beta, and gamma chains, each belonging to a distinct subfamily. The protein encoded by the LAMA5 gene belongs to the alpha subfamily and is a major component of basement membranes. Two transcript variants encoding different isoforms have been identified for this gene, but the full-length nature of one remains undetermined.

Laminin, binding to cells through a high-affinity receptor, plays a critical role in embryonic development. It facilitates cell attachment, migration, and organization into tissues by interacting with other extracellular matrix components. Moreover, laminin is involved in skeletogenesis regulation through a mechanism that involves integrin-mediated signaling and PTK2B/PYK2.

LAMA5 is also known as BBDS2, NPHS26.

Associated Diseases


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