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Normal Function
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.
Health Conditions Related to Genetic Changes
Oculocutaneous albinism
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.
More About This Health ConditionOther Names for This Gene
- AIM-1
- AIM1
- MATP
- melanoma antigen AIM1
- membrane associated transporter
- membrane-associated transporter protein
- S45A2_HUMAN
- solute carrier family 45, member 2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
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. doi: 10.1002/humu.20143. Citation on PubMed
- 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. doi: 10.1111/j.1600-0749.2006.00332.x. Citation on PubMed
- 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. doi: 10.1111/j.1600-0749.2005.00261.x. Citation on PubMed
- 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. doi: 10.1086/382195. Epub 2004 Feb 11. Citation on PubMed or Free article on PubMed Central
- 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. doi: 10.1086/324340. Epub 2001 Sep 26. Citation on PubMed or Free article on PubMed Central
- Rundshagen U, Zuhlke C, Opitz S, Schwinger E, Kasmann-Kellner B. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. 2004 Feb;23(2):106-110. doi: 10.1002/humu.10311. Citation on PubMed
- 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. doi: 10.1111/j.1469-1809.2006.00261.x. Citation on PubMed
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