LAMA1

This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome.

laminin, alpha 1

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Animal organ morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Axon guidanceManual Assertion Based On ExperimentIBA:GO_Central
Blood vessel morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Branching involved in salivary gland morphogenesisIEA:Ensembl
Camera-type eye developmentManual Assertion Based On ExperimentIBA:GO_Central
Cell adhesionIEA:UniProtKB-KW
Cell surface receptor signaling pathwayISS:UniProtKB
Epithelial tube branching involved in lung morphogenesisIEA:Ensembl
Establishment of epithelial cell apical/basal polarityIEA:Ensembl
Morphogenesis of an epithelial sheetIEA:Ensembl
Protein phosphorylationIEA:Ensembl
Regulation of cell adhesionIEA:InterPro
Regulation of cell migrationIEA:InterPro
Regulation of embryonic developmentIEA:InterPro
Retinal blood vessel morphogenesisIEA:Ensembl
Tissue developmentManual Assertion Based On ExperimentIBA:GO_Central

Secreted, extracellular space, extracellular matrix, basement membrane
Major component.

Poretti-Boltshauser syndrome (PTBHS):
An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity.

Tyrosine phosphorylated by PKDCC/VLK.