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Genetics Home Reference: your guide to understanding genetic conditions
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MCOLN1

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the MCOLN1 gene related to health conditions?

mucolipidosis type IV - caused by mutations in the MCOLN1 gene

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.

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.

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.

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?

  • MCLN1_HUMAN
  • ML4
  • MLIV
  • MST080
  • MSTP080
  • mucolipidin
  • TRPML1
  • TRP-ML1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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.

References

  • Dong XP, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H. The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Nature. 2008 Oct 16;455(7215):992-6. doi: 10.1038/nature07311. Epub 2008 Sep 14. (http://www.ncbi.nlm.nih.gov/pubmed/18794901?dopt=Abstract)
  • Gene Review: Mucolipidosis IV (http://www.ncbi.nlm.nih.gov/books/NBK1214)
  • Miedel MT, Rbaibi Y, Guerriero CJ, Colletti G, Weixel KM, Weisz OA, Kiselyov K. Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. J Exp Med. 2008 Jun 9;205(6):1477-90. doi: 10.1084/jem.20072194. Epub 2008 May 26. (http://www.ncbi.nlm.nih.gov/pubmed/18504305?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/57192)
  • Puertollano R, Kiselyov K. TRPMLs: in sickness and in health. Am J Physiol Renal Physiol. 2009 Jun;296(6):F1245-54. doi: 10.1152/ajprenal.90522.2008. Epub 2009 Jan 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19158345?dopt=Abstract)
  • Ruivo R, Anne C, Sagné C, Gasnier B. Molecular and cellular basis of lysosomal transmembrane protein dysfunction. Biochim Biophys Acta. 2009 Apr;1793(4):636-49. doi: 10.1016/j.bbamcr.2008.12.008. Epub 2008 Dec 24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19146888?dopt=Abstract)
  • Venugopal B, Mesires NT, Kennedy JC, Curcio-Morelli C, Laplante JM, Dice JF, Slaugenhaupt SA. Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol. 2009 May;219(2):344-53. doi: 10.1002/jcp.21676. (http://www.ncbi.nlm.nih.gov/pubmed/19117012?dopt=Abstract)
  • Vergarajauregui S, Connelly PS, Daniels MP, Puertollano R. Autophagic dysfunction in mucolipidosis type IV patients. Hum Mol Genet. 2008 Sep 1;17(17):2723-37. doi: 10.1093/hmg/ddn174. Epub 2008 Jun 11. (http://www.ncbi.nlm.nih.gov/pubmed/18550655?dopt=Abstract)
  • Vergarajauregui S, Oberdick R, Kiselyov K, Puertollano R. Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. Biochem J. 2008 Mar 1;410(2):417-25. (http://www.ncbi.nlm.nih.gov/pubmed/17988215?dopt=Abstract)
  • Vergarajauregui S, Puertollano R. Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy. Autophagy. 2008 Aug;4(6):832-4. Epub 2008 Jul 8. (http://www.ncbi.nlm.nih.gov/pubmed/18635948?dopt=Abstract)

 

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.

 
Reviewed: May 2009
Published: September 1, 2015