solute carrier family 45 member 2
Dernière mise à jour 18 Aug 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La 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
La 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
Other names
AIM-1
AIM1
MATP
melanoma antigen AIM1
membrane associated transporter
membrane-associated transporter protein
S45A2_HUMAN
solute carrier family 45, member 2
Related patient information and medicines
Patient information leaflet
Hémochromatose
Haemochromatosis is an inherited (genetic) disorder which causes the body to absorb too much iron from the diet. This excess iron causes damage to organs in which it builds up. The main treat... Because of the risk of developing a serious complication such as cirrhosis, treatment to remove iron buildup from the body is very important even if there.
Patient information leaflet
Sphérocytose héréditaire
Hereditary spherocytosis (HS) est an inherited condition of red blood cells. The disease can be mild and go unrecognised in some people. In others there may be severe anaemia requiring regular blood transfusions. Some people with hereditary spherocytosis may be offered surgery to remove their spleen. This usually helps the condition, but increases.
Patient information leaflet
Maladie polykystique des reins
This is an hereditary condition caused by a faulty gene which is inherited from one parent. Autosomal recessive polycystic kidney disease (ARPKD) This is a rare condition which affects about 1 in 20,000 people. Although people with PKD often develop kidney failure (end-stage kidney disease) between ages 55 to 65 years, some people with PKD have a.
Patient information leaflet
Mucoviscidose
The handling of sodium and chloride may only be ... What causes cystic fibrosis. Cystic fibrosis is a genetic disorder. A genetic disorder is one that can be passed on from your parents through your genes. If you have cystic fibrosis, one of your genes does not work properly. How is cystic fibrosis inherited. Mucoviscidose is an autosomal.
Patient information leaflet
Maladie de Wilson
When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits copper in other parts of the body, mainly the brain. How is Wilson's disease inherited. Maladie de Wilson est an autosomal recessive disorder. This means that, in order to develop Wilson's disease, two abnormal ATP7B genes must be.
Patient information leaflet
Dystrophie musculaire de Duchenne
Each person inherits a set of genes from their father and another set from their mother. The genes have been copied from the parents' cells into the child's cells. Genes are found on 'chromosomes', rather like houses on a street. The DMD gene is located on a chromosome called the X chromosome. Boys have one X chromosome and one Y chromosome; girls.
Lectures complémentaires et références
- 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.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.