solute carrier family 45 member 2
Última actualización 18 Aug 2020
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El 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 colour. 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.
Normal function
El 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 colour. 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.
Conditions referring to this gene or chromosome
Otros nombres
AIM-1
AIM1
MATP
melanoma antigen AIM1
membrane associated transporter
membrane-associated transporter protein
S45A2_HUMAN
solute carrier family 45, member 2
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Lecturas adicionales y referencias
- solute carrier family 45 member 2; MedlinePlus, National Library of Medicine.
- 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. Epub 2004 Feb 11.
- 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.
- 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.
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