Speedy Homolog E (SPDYE)

Ringo1; SPDYE1; WBSCR19; Williams Beuren Syndrome Chromosome Region 19

Speedy Homolog E (SPDYE)
WBSCR19 is elevated in copy number in chimp and bonobo and decreased in orangutan, gibbon, macaque, baboon, marmoset, and lemur; and WBSCR21 is elevated in gibbon, macaque, baboon, and marmoset. Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. The characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features.

Organism species: Homo sapiens (Human)