BEST3

BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]

BEST3属于阴离子通道的bestrophin家族，该家族包括BEST1（MIM 607854），即黄斑营养不良（VMD；MIM 153700）中的基因突变体，以及另外2个类似BEST1的基因，BEST2（MIM 607335）和BEST4（MIM 607336）。Bestrophin蛋白为跨膜（TM）蛋白，其具有一个高度同源的区域，该区域富含芳香族氨基酸，包括一个不变的精-苯-脯（RFP）基序。bestrophin基因共享一个保守的基因结构，其中8个编码RFP-TM结构域的外显子大小几乎相同，外显子-内含子边界高度保守。每个bestrophin基因都具有一个独特的、长度可变的3'端（Stohr等，2002 [PubMed 12032738]; Tsunenari等，2003 [PubMed 12907679]）。[由OMIM提供，2008年3月]