- About »
- Targets »
- Ligands »
- Resources »
- Advanced search »
Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).
Members of the SLC45 family remain to be fully characterised. SLC45A1 was initially identified in the rat brain, particularly predominant in the hindbrain, as a proton-associated sugar transport, induced by hypercapnia . The protein is predicted to have 12TM domains, with intracellular termini. The SLC45A2 gene is thought to encode a transporter protein that mediates melanin synthesis. Mutations in SLC45A2 are a cause of oculocutaneous albinism type 4 (e.g. ), and polymorphisms in this gene are associated with variations in skin and hair color (e.g. ).
1. Graf J, Hodgson R, van Daal A. (2005) Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum. Mutat., 25 (3): 278-84. [PMID:15714523]
2. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH. (2001) Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am. J. Hum. Genet., 69 (5): 981-8. [PMID:11574907]
3. Shimokawa N, Okada J, Haglund K, Dikic I, Koibuchi N, Miura M. (2002) Past-A, a novel proton-associated sugar transporter, regulates glucose homeostasis in the brain. J. Neurosci., 22 (21): 9160-5. [PMID:12417639]