The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.

doi:10.1182/blood-2007-02-075184

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Article

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.

Blood - 1 Sept 2007

Ganapathi Karthik A, Austin Karyn M, Lee Chung-Sheng, Dias Anusha, Malsch Maggie M, Reed Robin, Shimamura Akiko

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic dysfunction, and leukemia predisposition. Mutations in the SBDS gene are identified in most patients with SDS. SBDS encodes a highly conserved protein of unknown function. Data from SBDS orthologs suggest that SBDS may play a role in ribosome biogenesis or RNA processing. Human SBDS is...

Topics

Bone Marrow Diseases
Cell Nucleus
Cells, Cultured
Dactinomycin
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Humans
Leukemia
Multiprotein Complexes
Nuclear Proteins
Nucleic Acid Synthesis Inhibitors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleophosmin

Pancreatic Diseases

Protein Binding

Proteins

RNA, Ribosomal

Ribosomes

Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 17475909
DOI: 10.1182/blood-2007-02-075184
PMCID: PMC1975835

Genes

SBDS
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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