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Reviewed May 2009
What is the official name of the MCOLN1 gene?
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.
Read more about gene names and symbols on the About page.
What is the normal function of the MCOLN1 gene?
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.
Does the MCOLN1 gene share characteristics with other genes?
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? in the Handbook.
How are changes in the MCOLN1 gene related to health conditions?
Where is the MCOLN1 gene located?
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? in the Handbook.
Where can I find additional information about MCOLN1?
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.
What other names do people use for the MCOLN1 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 MCOLN1?
acids ; Ashkenazi Jewish ; cell ; channel ; digestive ; DNA ; endocytosis ; endosomes ; gene ; intron ; motor ; mutation ; nucleotide ; protein ; psychomotor ; retina ; secretion ; splice-site mutation ; stomach ; tissue ; Trp
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.