[A new form of Oculocutaneous albinism, OCA4].
Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). OCA4 was firstly reported in a Turkish OCA patient. The gene responsible for OCA4 is the human homologue of the mouse underwhite (uw) gene, which encodes the mem-brane-associated transporter protein (MATP). MATP gene is located on chromosome 5p13.3 and is divided into 7 exons and 6 introns. MATP gene is transcriptionally modulated by MITF, and encodes a protein of 530 amino acids. There are at least 18 pathologic mutations and 8 non-pathologic polymorphisms have been found.
Li
Hong-Yi
HY
Department of Medical Genetics, Zhongshan Medical College, SunYat-sen University, Guangzhou, China.
Duan
Hong-Lei
HL
Zheng
Hui
H
D016115:Albinism, Oculocutaneous / Q000145:classification / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D000818:Animals; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D011110:Polymorphism, Genetic
D026901:Membrane Transport Proteins