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Protein Coding Gene : Bbip1 BBSome interacting protein 1

Primary Identifier  MGI:1913610 Organism  mouse, laboratory
Chromosome  19 NCBI Gene Number  100503572
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Acts upstream of or within several processes, including eating behavior; erythrocyte homeostasis; and receptor localization to non-motile cilium. Predicted to be located in ciliary membrane and cytoplasm. Predicted to be part of BBSome. Used to study Bardet-Biedl syndrome 18. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 18. Orthologous to human BBIP1 (BBSome interacting protein 1).
PHENOTYPE: Mice homozygous for a null mutation display strain dependent postnatal lethality, obesity, hyperphagia, retinal degeneration and male infertility. [provided by MGI curators]
  • synonyms:
  • 4930560M04Rik,
  • RIKEN cDNA 4930560M04 gene,
  • RIKEN cDNA 2610002B11 gene,
  • Bbip1,
  • BBSome interacting protein 1,
  • 2310002J21Rik,
  • RIKEN cDNA 2310002J21 gene,
  • 2610002B11Rik,
  • MGI:1917356,
  • non-protein coding RNA 81,
  • Ncrna00081,
  • MGI:1922539

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