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The official name of this gene is “mucolipin 1.”
MCOLN1 is the gene's official symbol. The MCOLN1 gene is also known by other names, listed below.
The MCOLN1 gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes.
Mucolipin-1 acts as a channel, allowing positively charged atoms (cations) to cross the membranes of lysosomes and endosomes. It remains unclear which cations are allowed to flow through this channel. Mucolipin-1 appears to be important for the development and maintenance of the brain and light-sensitive tissue at the back of the eye (retina). In addition, this protein is likely critical for normal functioning of the cells in the stomach that produce digestive acids.
The MCOLN1 gene belongs to a family of genes called TRP (transient receptor potential cation channels).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least 22 mutations in the MCOLN1 gene have been found to cause mucolipidosis type IV. Most of these mutations result in the production of a nonfunctional protein or prevent any protein from being produced. Two mutations in the MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. The most common mutation, written as 406-2A>G, changes a single DNA building block (nucleotide) in a region of the gene known as intron 3. This mutation, which is called a splice-site mutation, introduces a premature stop signal in the instructions for making mucolipin-1. The other mutation, written as 511_6943del, deletes a large amount of DNA near the beginning of the MCOLN1 gene. Both of these mutations result in the production of an abnormally short, nonfunctional protein.
A lack of functional mucolipin-1 impairs transport of lipids and proteins, causing these substances to build up inside lysosomes. It remains unclear how mutations in the MCOLN1 gene lead to delayed development of mental and motor skills (psychomotor delay), progressive vision loss, and impaired secretion of stomach acid (achlorhydia) in people with mucolipidosis type IV.
Cytogenetic Location: 19p13.2
Molecular Location on chromosome 19: base pairs 7,522,609 to 7,534,008
The MCOLN1 gene is located on the short (p) arm of chromosome 19 at position 13.2.
More precisely, the MCOLN1 gene is located from base pair 7,522,609 to base pair 7,534,008 on chromosome 19.
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 MCOLN1 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.
acids ; Ashkenazi Jewish ; cell ; channel ; digestive ; DNA ; endocytosis ; endosomes ; gene ; intron ; motor ; mutation ; nucleotide ; protein ; psychomotor ; retina ; secretion ; splice-site mutation ; stomach ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.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.