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Genetics Home Reference: your guide to understanding genetic conditions
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SLC45A2

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.

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

How are changes in the SLC45A2 gene related to health conditions?

oculocutaneous albinism - caused by mutations in the SLC45A2 gene

More than 20 mutations in the SLC45A2 gene are responsible for oculocutaneous albinism type 4. The most common SLC45A2 mutation in the Japanese population switches a single protein building block (amino acid) in the SLC45A2 protein. Specifically, this mutation replaces the amino acid aspartic acid with the amino acid asparagine at protein position 157 (written as Asp157Asn or D157N). Other mutations, including changes in single amino acids and deletions or insertions of genetic material in the SLC45A2 gene, have also been reported in several populations worldwide. Mutations in this gene reduce or eliminate the function of the SLC45A2 protein in melanin production. Because this protein is important for normal pigmentation, its loss leads to changes in skin, hair, and eye coloration and problems with vision that are characteristic of oculocutaneous albinism type 4.

Where is the SLC45A2 gene located?

Cytogenetic Location: 5p13.2

Molecular Location on chromosome 5: base pairs 33,944,615 to 33,984,674

The SLC45A2 gene is located on the short (p) arm of chromosome 5 at position 13.2.

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 33,944,615 to base pair 33,984,674 on chromosome 5.

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 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?

  • AIM1
  • AIM-1
  • MATP
  • melanoma antigen AIM1
  • membrane associated transporter
  • membrane-associated transporter protein
  • S45A2_HUMAN

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 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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Graf J, Hodgson R, van Daal A. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum Mutat. 2005 Mar;25(3):278-84. (http://www.ncbi.nlm.nih.gov/pubmed/15714523?dopt=Abstract)
  • Inagaki K, Suzuki T, Ito S, Suzuki N, Adachi K, Okuyama T, Nakata Y, Shimizu H, Matsuura H, Oono T, Iwamatsu H, Kono M, Tomita Y. Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Res. 2006 Oct;19(5):451-3. (http://www.ncbi.nlm.nih.gov/pubmed/16965274?dopt=Abstract)
  • Inagaki K, Suzuki T, Ito S, Suzuki N, Fukai K, Horiuchi T, Tanaka T, Manabe E, Tomita Y. OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean. Pigment Cell Res. 2005 Oct;18(5):385-8. (http://www.ncbi.nlm.nih.gov/pubmed/16162179?dopt=Abstract)
  • Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet. 2004 Mar;74(3):466-71. Epub 2004 Feb 11. (http://www.ncbi.nlm.nih.gov/pubmed/14961451?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/51151)
  • Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet. 2001 Nov;69(5):981-8. Epub 2001 Sep 26. (http://www.ncbi.nlm.nih.gov/pubmed/11574907?dopt=Abstract)
  • Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. 2004 Feb;23(2):106-10. (http://www.ncbi.nlm.nih.gov/pubmed/14722913?dopt=Abstract)
  • Yuasa I, Umetsu K, Harihara S, Kido A, Miyoshi A, Saitou N, Dashnyam B, Jin F, Lucotte G, Chattopadhyay PK, Henke L, Henke J. Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. Ann Hum Genet. 2006 Nov;70(Pt 6):802-11. (http://www.ncbi.nlm.nih.gov/pubmed/17044855?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: March 2007
Published: July 21, 2014