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Gene : BBS10 Homo sapiens

Name  ? Bardet-Biedl syndrome 10 Cytological Location  12q21.2
Brief Description  Bardet-Biedl syndrome 10
Description  This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
  • synonyms:
  • uc001syd.2,
  • OTTHUMG00000147352,
  • NM_024685,
  • BC026355,
  • HGNC:26291,
  • C12orf58,
  • C12orf58,
  • chromosome 12 open reading frame 58,
  • FLJ23560,
  • BBS10
  • identifiers:
  • 79738,
  • ENSG00000179941,
  • BBS10

Genome feature

Region: gene ? Length: 3942  
Location: 12:76344474-76348415 reverse strand Cyto location: 12q21.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

3756 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results