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Reviewed August 2009
What is the official name of the GNPTAB gene?
The official name of this gene is “N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits.”
GNPTAB is the gene's official symbol. The GNPTAB 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 GNPTAB gene?
The GNPTAB gene provides instructions for making two different parts, the alpha and beta subunits, of an enzyme called GlcNAc-1-phosphotransferase. This enzyme is made up of two alpha (α), two beta (β), and two gamma (γ) subunits. The gamma subunit is produced from a different gene, called GNPTG. GlcNAc-1-phosphotransferase helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes called hydrolases to break down large molecules into smaller ones that can be reused by cells.
GlcNAc-1-phosphotransferase is involved in the first step of making a molecule called mannose-6-phosphate (M6P). M6P acts as a tag that indicates a hydrolase should be transported to the lysosome. Specifically, GlcNAc-1-phosphotransferase transfers a molecule called GlcNAc-1-phosphate to a newly produced hydrolase. In the next step, a molecule is removed to reveal an M6P attached to the hydrolase. Once a hydrolase has an M6P tag, it can be transported to a lysosome.
How are changes in the GNPTAB gene related to health conditions?
Where is the GNPTAB gene located?
Cytogenetic Location: 12q23.2
Molecular Location on chromosome 12: base pairs 102,139,274 to 102,224,644
The GNPTAB gene is located on the long (q) arm of chromosome 12 at position 23.2.
More precisely, the GNPTAB gene is located from base pair 102,139,274 to base pair 102,224,644 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GNPTAB?
You and your healthcare professional may find the following resources about GNPTAB 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 GNPTAB 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 GNPTAB?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 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.