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Reviewed March 2007
What is the official name of the SLC45A2 gene?
The official name of this gene is “solute carrier family 45, member 2.”
SLC45A2 is the gene's official symbol. The SLC45A2 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 SLC45A2 gene?
The SLC45A2 gene (also called MATP) provides instructions for making a protein that is located in specialized cells called melanocytes. These cells produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Although the exact function of the SLC45A2 protein is unknown, it is likely involved in the production of melanin. This protein probably transports molecules necessary for the normal function of melanosomes, which are the structures in melanocytes where melanin is produced. Studies suggest that certain common variations (polymorphisms) in the SLC45A2 gene may be associated with normal differences in skin, hair, and eye coloring.
Does the SLC45A2 gene share characteristics with other genes?
The SLC45A2 gene belongs to a family of genes called SLC (solute carriers).
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 SLC45A2 gene related to health conditions?
Where is the SLC45A2 gene located?
Cytogenetic Location: 5p13.2
Molecular Location on chromosome 5: base pairs 33,944,616 to 33,985,144
The SLC45A2 gene is located on the short (p) arm of chromosome 5 at position 13.2.
More precisely, the SLC45A2 gene is located from base pair 33,944,616 to base pair 33,985,144 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SLC45A2?
You and your healthcare professional may find the following resources about SLC45A2 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 SLC45A2 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 SLC45A2?
acids ; albinism ; allele ; amino acid ; asparagine ; aspartic acid ; carrier ; gene ; melanin ; melanocytes ; melanoma ; mutation ; pigment ; pigmentation ; population ; protein ; retina ; solute ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.