LAMA5

Domain

Domain G is globular and is part of the major cell-binding site located in the long arm of the laminin heterotrimer.

Function

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. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signaling and PTK2B/PYK2 (PubMed:33242826).

Involvement in disease

Nephrotic syndrome 26

NPHS26

A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS26 is an autosomal recessive form characterized by onset of proteinuria in the first months or years of life. Some patients respond to steroids, whereas others show steroid resistance and progression to end-stage renal disease.

None

The disease is caused by variants affecting the gene represented in this entry.

Bent bone dysplasia syndrome 2

BBDS2

An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function.

None

The disease may be caused by variants affecting the gene represented in this entry.

Tissue Specificity

Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no expression in brain and liver. Expressed in muscle, ligaments, periosteum, trabecular bone and throughout the cartilage, particularly in the growth plate and in articular chondrocytes (PubMed:33242826).

Cellular localization

• Secreted
• Extracellular space
• Extracellular matrix
• Basement membrane
• Major component.

Alternative names

KIAA0533, KIAA1907, LAMA5, Laminin subunit alpha-5, Laminin-10 subunit alpha, Laminin-11 subunit alpha, Laminin-15 subunit alpha

Database links

swissprot:O15230 entrezGene:3909 entrezGene:3911 entrezGene:3914 entrezGene:3918 swissprot:Q13753 swissprot:Q13751 swissprot:Q16787 omim:601033