Laminin subunit alpha-5

Laminin subunit alpha-5 (LAMA5) is an extracellular matrix protein that mediates cell attachment, migration, and tissue organization during development through integrin-mediated signaling and interaction with other matrix components (UniProt: O15230). It plays a regulatory role in skeletogenesis and is thought to contribute to tissue architecture and cellular organization throughout the body.

LAMA5 is primarily associated with connective tissue and skeletal development. In the clinical literature, mutations in LAMA5 have been linked to nephrotic syndrome 26 (NPHS26) and bent bone dysplasia syndrome 2 (BBDS2), both rare genetic disorders affecting kidney and bone function respectively (UniProt: O15230).

In Alzheimer's Disease, LAMA5 is upregulated in post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics), with a mean log2 fold-change of 0.66 in human brain analyzed by quantitative proteomics. This modest upregulation suggests potential involvement in extracellular matrix remodeling or neuroinflammatory processes associated with AD pathology, though the functional significance of this change requires further investigation.