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Reviewed August 2013
What is the official name of the ISPD gene?
The official name of this gene is “isoprenoid synthase domain containing.”
ISPD is the gene's official symbol. The ISPD 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 ISPD gene?
The ISPD gene provides instructions for making a protein that is found in many of the body's tissues but is particularly abundant in the brain.
Although the function of the ISPD protein is unclear, researchers believe that it is involved in the modification of a protein called alpha (α)-dystroglycan. Specifically, ISPD is thought to aid in the addition of chains of sugar molecules to α-dystroglycan through a process known as glycosylation. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
How are changes in the ISPD gene related to health conditions?
Where is the ISPD gene located?
Cytogenetic Location: 7p21.2
Molecular Location on chromosome 7: base pairs 15,916,851 to 16,530,558
The ISPD gene is located on the short (p) arm of chromosome 7 at position 21.2.
More precisely, the ISPD gene is located from base pair 15,916,851 to base pair 16,530,558 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ISPD?
You and your healthcare professional may find the following resources about ISPD 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 ISPD 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 ISPD?
cell ; congenital ; cytoskeleton ; domain ; extracellular ; extracellular matrix ; gene ; glycosylation ; methyl ; muscle cells ; muscular dystrophy ; neuronal migration ; phosphate ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
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.