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The official name of this gene is “atlastin GTPase 1.”
ATL1 is the gene's official symbol. The ATL1 gene is also known by other names, listed below.
The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is found throughout the body, particularly in the brain. In cells, this protein is found in structures known as the endoplasmic reticulum and the Golgi apparatus, which are involved in the movement of proteins and cell components within the cell. Atlastin-1 likely plays a role in the transportation of cell components and in the formation of the endoplasmic reticulum and Golgi apparatus, each of which is involved in the growth of axons (specialized extensions of nerve cells that transmit nerve impulses). Atlastin-1 is necessary for the formation and growth of axons; however, its precise function remains unclear.
More than 30 mutations in the ATL1 gene have been identified in people with spastic paraplegia type 3A. Most of these mutations change one protein building block (amino acid) in the atlastin-1 protein. It remains unclear how mutations in the ATL1 gene lead to the signs and symptoms of spastic paraplegia type 3A. Researchers suggest that these mutations disrupt the structure of atlastin-1, which interferes with the protein's role in the formation and growth of axons.
Cytogenetic Location: 14q22.1
Molecular Location on chromosome 14: base pairs 50,533,081 to 50,633,067
The ATL1 gene is located on the long (q) arm of chromosome 14 at position 22.1.
More precisely, the ATL1 gene is located from base pair 50,533,081 to base pair 50,633,067 on chromosome 14.
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 ATL1 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.
amino acid ; autosomal ; autosomal dominant ; axons ; cell ; endoplasmic reticulum ; gene ; Golgi apparatus ; paraplegia ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.