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Gene : BBS7 Homo sapiens

Name  ? Bardet-Biedl syndrome 7 Cytological Location  4q27
Brief Description  Bardet-Biedl syndrome 7
Description  This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
  • synonyms:
  • BBS2L1,
  • BBS2L1,
  • AF521644,
  • OTTHUMG00000133076,
  • FLJ10715,
  • HGNC:18758,
  • NM_018190,
  • BBS7,
  • uc003ied.4
  • identifiers:
  • 55212,
  • ENSG00000138686,
  • BBS7

Genome feature

Region: gene ? Length: 46169  
Location: 4:121824329-121870497 reverse strand Cyto location: 4q27


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Proteins

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SNPs

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Disease

1 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3756 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results