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Bardet-Biedl syndrome 12 protein (BBS12, C4orf24)

Structure: - belongs to the TCP-1 chaperonin family, BBS12 subfamily Pathology: - defects in BBS12 are the cause of Bardet-Biedl syndrome type 12

Properties

GENERAL: uncharacterized protein SIZE: entity length = 710 aa MW = 79 kD FORM: Bardet-Biedl syndrome 12 protein

Database Correlations

OMIM 209900 UniProt Q6ZW61

References

  1. UniProt :accession Q6ZW61
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS12