Gene:
vitelliform macular dystrophy 2-like 2
Description:
The VMD2 gene (MIM 607854) underlying vitelliform macular dystrophy and the 3 VMD2-like genes, VMD2L1 (MIM 607335), VMD2L2, and VMD2L3 (MIM 607337), encode transmembrane (TM) spanning proteins that share a homology region with a high content of aromatic residues including an invariant arginine (R), phenylalanine (F), and proline (P) motif. VMD2 and the 3 VMD2-related genes share a conserved gene structure with almost identical sizes of the 8 RFP-TM domain encoding exons and highly conserved positions of their corresponding exon-intron boundaries. Each of the 4 paralogous genes contains a unique 3-prime end of variable length without significant homology to known proteins or motifs (Stohr et al., 2002).[supplied by OMIM]