SBDS SBDS ribosome maturation factor
Gene ID: 51119, updated on 17-Sep-2024Gene type: protein coding
Also known as: SDS; SDO1; SWDS; CGI-97
- See all available tests in GTR for this gene
- Go to complete Gene record for SBDS
- Go to Variation Viewer for SBDS variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Aplastic anemia | See labs |
| Shwachman syndrome MedGen: C0272170GeneReviews: Shwachman-Diamond Syndrome | See labs |
| Shwachman-Diamond syndrome 1 | See labs |
Genomic context
- Location:
- 7q11.21
- Sequence:
- Chromosome: 7; NC_000007.14 (66987680..66995586, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SBDS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SBDS database
- SBDSbase: Mutation registry for Shwachman-Diamond syndrome
- Variation ViewerRelated Variants
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