SBDS

Aliases 
FLJ10917, SDS, SWDS
Chromosomal Locations 
7q11.21

This gene 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.

Description 
Shwachman-Bodian-Diamond syndrome ribosome maturation protein SBDS shwachman-Bodian-Diamond syndrome protein