Shwachman Bodian Diamond Syndrome Protein (SBDS)

SBDS encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located.

SBDS gene is composed of 5 exons spanning 7.9 kb. SBDS and an adjacent gene reside in a block of 305 kb of genomic sequence that is locally duplicated. The paralogous duplicon is located 5.8 Mb distally and contains an unprocessed pseudogene copy of SBDS designated SBDSP.