ADAMTSL4

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What is the official name of the ADAMTSL4 gene?

The official name of this gene is “ADAMTS-like 4.”

ADAMTSL4 is the gene's official symbol. The ADAMTSL4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ADAMTSL4 gene?

The ADAMTSL4 gene provides instructions for making a protein that is found throughout the body. The ADAMTSL4 protein is released from cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this matrix, the ADAMTSL4 protein attaches (binds) to another protein called fibrillin-1. Fibrillin-1 proteins bind to each other and other proteins to form threadlike filaments called microfibrils. It is likely that the binding of ADAMTSL4 to fibrillin-1 promotes microfibril assembly. Microfibrils provide support to many tissues, including the lenses of the eyes, which are held in their central position by these filaments.

How are changes in the ADAMTSL4 gene related to health conditions?

isolated ectopia lentis - caused by mutations in the ADAMTSL4 gene: At least 15 mutations in the ADAMTSL4 gene have been found to cause isolated ectopia lentis. In this condition, the lens in one or both eyes is off-center (displaced), which leads to vision problems. An ADAMTSL4 gene mutation that is frequently found in affected individuals of European ancestry deletes 20 DNA building blocks (nucleotides) from the gene (written as 767_787del20). This mutation leads to the production of a protein that is abnormally short and nonfunctional. A lack of functional ADAMTSL4 protein likely diminishes the ability of fibrillin-1 to effectively form microfibrils. As a result, there is a reduction in filaments to anchor the lens in its central position at the front of the eye, leading to its displacement and the vision problems characteristic of isolated ectopia lentis. While the ADAMTSL4 protein is found throughout the body, it is thought that other proteins can compensate for its function in tissues other than the eyes, which likely explains why only the eyes are affected in this condition.
other disorders - caused by mutations in the ADAMTSL4 gene: Some ADAMTSL4 gene mutations cause an eye condition called ectopia lentis et pupillae. In this condition, both the lenses and the pupils are off-center; they are usually displaced in opposite directions. People with ectopia lentis et pupillae have eye and vision problems similar to those with isolated ectopia lentis (described above), including nearsightedness (myopia), farsightedness (hyperopia), or an irregular curvature of the front of the eye (astigmatism). They may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at an early age. Similar to isolated ectopia lentis, the ADAMTSL4 gene mutations that cause ectopia lentis et pupillae lead to decreased production of microfibrils or the formation of impaired microfibrils, which prevents the proper anchoring of certain structures in the eyes. It is unclear why some ADAMTSL4 gene mutations affect only the lenses and others also affect the pupils.

Where is the ADAMTSL4 gene located?

Cytogenetic Location: 1q21.3

Molecular Location on chromosome 1: base pairs 150,549,368 to 150,560,936

The ADAMTSL4 gene is located on the long (q) arm of chromosome 1 at position 21.3.

More precisely, the ADAMTSL4 gene is located from base pair 150,549,368 to base pair 150,560,936 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ADAMTSL4?

You and your healthcare professional may find the following resources about ADAMTSL4 helpful.

Educational resources - Information pages
Madame Curie Bioscience Database: Assembly of Microfibrils
Gene Reviews - Clinical summary
Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog (2 links)
Research Resources - Tools for researchers (2 links)

What other names do people use for the ADAMTSL4 gene or gene products?

ADAMTSL-4
ADAMTS-like protein 4
ATL4_HUMAN
ECTOL2
thrombospondin repeat-containing protein 1
TSRC1

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ADAMTSL4?

astigmatism ; DNA ; extracellular ; extracellular matrix ; gene ; glaucoma ; microfibrils ; mutation ;myopia ; nearsightedness ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (6 links)

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? in the Handbook