MATP基因及其蛋白产物的结构与功能  

MATP Gene and the Structure and Function of MATP

作　　者：孟舒[1] 郑辉[2] 李洪义[1] 

机构地区：[1]中山大学中山医学院遗传学教研室,广州510080 [2]暨南大学医学院生理学教研室,广州510632

出　　处：《国际遗传学杂志》2008年第1期45-47,共3页International Journal of Genetics

基　　金：国家自然科学基金（30672003）;广东省医学科研基金（A2005345）

摘　　要：MATP基因是眼皮肤白化病Ⅳ型（OCA4）的致病基因，其病理突变谱和DNA多态性在不同种族之间存在很大差异，提示该基因在人类各种族之间肤色差异中发挥作用。所编码蛋白MATP是黑素小体跨膜蛋白，在黑素小体发生中发挥重要作用，可能转运黑色素合成或者黑素小体发挥正常功能所需物质。Oculocutaneous albinism type Ⅳ is caused by mutations in the MATP gene. Different races have their unique pathologic mutations and single nucleotide polymorphisms of this gene, which indicates that MATP gene that is coded by MATP gene influence on the pigmentation variation. The membrane-associated transporter protein which encodes a membrane protein of the melanosome, plays an important role in the melanosome biogenesis and may possibly transport the substances that are needed in the melanin synthesis or in the maintenance of normal circumstances of melanosome.

关 键 词：MATP基因 膜相关转运蛋白 基因突变 功能 

分 类 号：R7[医药卫生—临床医学] Q[生物学]