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SLC45A2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC45A2 gene

The SLC45A2 gene encodes a protein that plays a key role in melanin production; mutations in this gene cause oculocutaneous albinism type 4 and influence normal variations in skin, hair, and eye color.

Overview

The SLC45A2 gene, also known as MATP, provides instructions for making a protein located in melanocytes, the cells that produce the pigment melanin. Melanin gives color to skin, hair, and eyes and is also present in the retina, where it supports normal vision.

Although the exact function of the SLC45A2 protein is not fully understood, it is believed to transport molecules necessary for the normal function of melanosomes, the organelles where melanin is synthesized. Common genetic variations (polymorphisms) in SLC45A2 are associated with normal differences in pigmentation.

Health Conditions Related to Genetic Changes

Oculocutaneous albinism type 4 (OCA4)

More than 20 mutations in the SLC45A2 gene cause oculocutaneous albinism type 4. The most frequent mutation in the Japanese population replaces the amino acid aspartic acid with asparagine at position 157 (Asp157Asn or D157N). Other mutations—including single amino‑acid changes and insertions or deletions—have been reported worldwide. These mutations reduce or eliminate the protein’s function in melanin production, leading to altered skin, hair, and eye coloration and visual problems characteristic of OCA4.

Melanoma

MedlinePlus Genetics provides information about melanoma.

Other 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

Genetic Testing

  • Tests of SLC45A2

Scientific Literature

  • PubMed

Gene Catalogs

  • SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2

Gene and Variant Databases

  • NCBI Gene
  • ClinVar

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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

Genomic Location

The SLC45A2 gene is located on chromosome 5.

Frequently Asked Questions

Due to their lack of melanin, individuals with OCA4 are highly susceptible to sun damage and skin cancer. It is crucial to strictly avoid direct sun exposure, wear protective clothing, use broad-spectrum sunscreen with a high SPF daily, and wear UV-blocking sunglasses to protect their eyes. Regular skin checks by a dermatologist are also important.
Individuals with OCA4 typically have very light skin, hair, and eye color due to reduced melanin production. They often experience significant visual problems, including reduced sharpness of vision (visual acuity), involuntary eye movements (nystagmus), sensitivity to light (photophobia), and misrouting of optic nerves.
Mutations in SLC45A2 lead to a lack of melanin in the retina, which is crucial for normal visual development and function. This melanin deficiency contributes to several visual impairments, such as reduced visual acuity, nystagmus (rapid, uncontrolled eye movements), strabismus (misalignment of the eyes), and photophobia (light sensitivity).
Yes, genetic testing is available to identify mutations in the SLC45A2 gene that cause OCA4. This testing can confirm a diagnosis, help differentiate OCA4 from other types of albinism, and provide information for family planning and genetic counseling for individuals who may be carriers or at risk.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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