LAMA1
Description
The LAMA1 (laminin subunit alpha 1) is a protein-coding gene located on chromosome 18.
Laminin subunit alpha-1 is a protein encoded by the LAMA1 gene in humans. It interacts with FBLN2. Mutations in the LAMA1 gene are associated with Poretti–Boltshauser syndrome.
Laminin, the protein encoded by LAMA1, binds to cells through a high-affinity receptor and plays a crucial role in embryonic development by facilitating cell attachment, migration, and organization into tissues. It achieves this by interacting with other components of the extracellular matrix.
LAMA1 is also known as LAMA, PTBHS, S-LAM-alpha.
Associated Diseases
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- Poretti-Boltshauser syndrome
