Gene Symbol | SBDS |
Entrez Gene ID | 51119 |
Full Name | SBDS, ribosome maturation factor |
Synonyms | CGI-97,SDS,SWDS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Shwachman-Diamond syndrome, 260400 (3); {Aplastic anemia, susceptibility to}, 609135 (3) |