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Gene : SBDS Homo sapiens

Name  ? SBDS ribosome maturation factor Cytological Location  7q11.21
Brief Description  SBDS, ribosome maturation factor
description  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]
  • synonyms:
  • NM_016038,
  • HGNC:19440,
  • Shwachman-Bodian-Diamond syndrome,
  • CGI-97,
  • SBDS,
  • SBDS, ribosome assembly guanine nucleotide exchange factor,
  • FLJ10917,
  • OTTHUMG00000023165,
  • CGI-97,
  • SWDS,
  • SDS,
  • SWDS,
  • uc003tvm.2,
  • SDS,
  • AF151855
  • identifiers:
  • 51119,
  • ENSG00000126524,
  • SBDS

Genome feature

Region: gene ? Length: 8020  
Location: 7:66987677-66995696 reverse strand Cyto location: 7q11.21

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2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

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93 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results