SBDS, Official Symbol SBDSprovided by HGNC Official Full Name SBDS ribosome maturation factorprovided by HGNC Primary source HGNC:HGNC:19440 See related Ensembl:ENSG00000126524 MIM:607444; AllianceGenome:HGNC:19440 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SDS; SDO1; SWDS; CGI-97 Summary This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in heart (RPKM 89.6), fat (RPKM 75.8) and 25 other tissues See more Orthologs mouse all