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Reviewed March 2015
What is the official name of the ATL1 gene?
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.
Read more about gene names and symbols on the About page.
What is the normal function of the ATL1 gene?
The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement. In neurons, this protein is found mainly in the endoplasmic reticulum, which is a structure involved in protein processing and distribution. Atlastin-1 fuses together the network of tubules that make up the structure of the endoplasmic reticulum. Atlastin-1 is also active in compartments called axonal growth cones, which are located at the tip of neurons. The axonal growth cones direct the growth of specialized extensions, called axons, which transmit nerve impulses that signal muscle movement. Within axonal growth cones, atlastin-1 acts during development to help guide the growth of axons.
How are changes in the ATL1 gene related to health conditions?
Where is the ATL1 gene located?
Cytogenetic Location: 14q22.1
Molecular Location on chromosome 14: base pairs 50,533,082 to 50,633,068
(Homo sapiens Annotation Release 107, GRCh38.p2) (
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 50,533,082 to base pair 50,633,068 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ATL1?
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.
What other names do people use for the ATL1 gene or gene products?
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 ATL1?
amino acid ; axons ; cell ; central nervous system ; cones ; endoplasmic reticulum ; gene ; hereditary ; nerve cell ; nervous system ; neuropathy ; paraplegia ; peripheral ; peripheral neuropathy ; protein ; sensory neuropathy ; spasticity ; voluntary muscle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.