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The official name of this gene is “ADAMTS-like 2.”
ADAMTSL2 is the gene's official symbol. The ADAMTSL2 gene is also known by other names, listed below.
The ADAMTSL2 gene provides instructions for making a protein whose function is unknown. The ADAMTSL2 protein is active in many different tissues. It is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.
Studies suggest that the ADAMTSL2 protein interacts with a protein called latent transforming growth factor beta binding protein 1 (LTBP1). The LTBP1 protein is involved in the storage of transforming growth factor beta (TGF-β), a critical growth factor that helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). Through its interaction with the LTBP1 protein, researchers suspect that the ADAMTSL2 protein may help regulate the availability of TGF-β.
The interaction between the ADAMTSL2 protein and the LTBP1 protein suggests that ADAMTSL2 may also play a role in the microfibrillar network. This organized clustering of thread-like filaments (called microfibrils) in the extracellular matrix provides strength and flexibility to tissues throughout the body.
At least five mutations in the ADAMTSL2 gene have been identified in people with geleophysic dysplasia. Most of these mutations change single protein building blocks (amino acids) in the ADAMTSL2 protein, which probably alters the protein's 3-dimensional shape.
Through a process that is poorly understood, ADAMTSL2 gene mutations alter the microfibrillar network in many different tissues. Impairment of this essential network disrupts the normal functions of cells, which likely contributes to the varied signs and symptoms of geleophysic dysplasia. Researchers are working to determine how mutations in the ADAMTSL2 gene lead to short stature, heart disease, and the other features of this condition.
Cytogenetic Location: 9q34.2
Molecular Location on chromosome 9: base pairs 133,532,163 to 133,575,518
The ADAMTSL2 gene is located on the long (q) arm of chromosome 9 at position 34.2.
More precisely, the ADAMTSL2 gene is located from base pair 133,532,163 to base pair 133,575,518 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ADAMTSL2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; apoptosis ; cell ; differentiation ; dysplasia ; extracellular ; extracellular matrix ; gene ; growth factor ; microfibrils ; proliferation ; protein ; short stature ; stature
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.