ALG1

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What is the official name of the ALG1 gene?

The official name of this gene is “ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase.”

ALG1 is the gene's official symbol. The ALG1 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 ALG1 gene?

The ALG1 gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are attached to proteins and fats (lipids). Glycosylation modifies proteins so they can fully perform their functions and modifies lipids so they can help cells interact with each other. Oligosaccharides are made up of many sugar molecules that are attached to one another in a stepwise process, forming a complex chain. The enzyme produced from the ALG1 gene transfers a simple sugar called mannose to growing oligosaccharides at a particular step in the formation of the chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid.

Does the ALG1 gene share characteristics with other genes?

The ALG1 gene belongs to a family of genes called glycosyltransferase group 1 domain containing(glycosyltransferase group 1 domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the ALG1 gene related to health conditions?

ALG1-congenital disorder of glycosylation - caused by mutations in the ALG1 gene: At least 15 mutations in the ALG1 gene have been found to cause ALG1-congenital disorder of glycosylation (ALG1-CDG). This condition typically leads to intellectual disability, delayed development, weak muscle tone (hypotonia), and other signs and symptoms that affect many body systems. Mutations in the ALG1 gene result in the production of an abnormal enzyme with little activity. The poorly functioning enzyme cannot add mannose to sugar chains efficiently, and the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and lipids, the process is not as efficient as with the full-length oligosaccharide. The wide variety of signs and symptoms in ALG1-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for normal function of many organs and tissues.

Where is the ALG1 gene located?

Cytogenetic Location: 16p13.3

Molecular Location on chromosome 16: base pairs 5,071,809 to 5,087,379

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI

)

The ALG1 gene is located on the short (p) arm of chromosome 16 at position 13.3.

More precisely, the ALG1 gene is located from base pair 5,071,809 to base pair 5,087,379 on chromosome 16.

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

Where can I find additional information about ALG1?

You and your healthcare professional may find the following resources about ALG1 helpful.

Educational resources - Information pages (4 links)
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
Research Resources - Tools for researchers (4 links)

What other names do people use for the ALG1 gene or gene products?

asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog
asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
asparagine-linked glycosylation protein 1 homolog
beta-1,4 mannosyltransferase
beta-1,4-mannosyltransferase
chitobiosyldiphosphodolichol beta-mannosyltransferase
GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase
GDP-mannose-dolichol diphosphochitobiose mannosyltransferase
HMAT1
hMat-1
HMT1
HMT-1
mannosyltransferase-1
Mat-1
MT-1

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 ALG1?

asparagine ; congenital ; disability ; enzyme ; gene ; glycosylation ; hypotonia ; lipid ; mannose ;muscle tone ; oligosaccharides ; protein ; simple sugar

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

References (5 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