The GLB1 gene provides instructions for producing two different proteins. The primary protein produced from the GLB1 gene is an enzyme called beta-galactosidase (β-galactosidase). This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. β-galactosidase helps break down certain substances, including GM1 ganglioside and keratan sulfate. GM1 ganglioside is important for normal functioning of nerve cells (neurons) in the brain. Keratan sulfate is particularly abundant in cartilage and the clear covering of the eye (cornea). Keratan sulfate belongs to a group of large sugar molecules called glycosaminoglycans or mucopolysaccharides.
The GLB1 gene also provides instructions for making the elastin-binding protein. This protein is smaller than β-galactosidase and is found on the surface of cells rather than in lysosomes. Elastin-binding protein interacts with other proteins called cathepsin A and neuraminidase 1. This group of proteins forms the elastin receptor complex. This complex plays a role in building elastic fibers, which are a component of the connective tissue that forms the body’s supportive framework.
Other Names
BGAL_HUMAN; EBP; elastin receptor 1, 67kDa; ELNR1
Related Genetics Topics
Identifiers
- NCBI Gene: 2720
- OMIM: 611458
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
