FIGURE: 1 / 2
Peptide sequence: LQTHSVFVNV SKGQVAKKED LISAFGTDDQ TEICKQILTK GEVQVSDKER
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 93%; Rat: 100%; Zebrafish: 85%
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.
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Protein Aliases: FLJ10917; Ribosome maturation protein SBDS; Shwachman-Bodian-Diamond syndrome; Shwachman-Bodian-Diamond syndrome protein
Gene Aliases: CGI-97; SBDS; SDS; SWDS
UniProt ID: (Human) Q9Y3A5
Entrez Gene ID: (Human) 51119