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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.
4733401P19Rik; AI836084; CGI-97; FLJ10917; Protein 22A3; ribosome maturation protein SBDS; SBDS; SBDS ribosome assembly guanine nucleotide exchange factor; SBDS ribosome maturation factor; SBDS, ribosome assembly guanine nucleotide exchange factor; SBDS, ribosome maturation factor; SDS; Shwachman-Bodian-Diamond syndrome; Shwachman-Bodian-Diamond syndrome homolog; Shwachman-Bodian-Diamond syndrome homolog (human); Shwachman-Bodian-Diamond syndrome protein; Shwachman-Bodian-Diamond syndrome protein homolog; SWDS; zgc:56700
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