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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...

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Source

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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