BBS12

Gene Information
  • Official Symbol: BBS12
  • Official Name: Bardet-Biedl syndrome 12
  • Aliases and Previous Symbols: N/A
  • Entrez ID: 166379
  • UniProt: Q6ZW61
  • Interactions: BioGRID
  • PubMed articles: Open PubMed
  • OMIM: Open OMIM
Function Summary
  • Entrez Summary: The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010].
  • UniProt Summary: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.

Pfam Domains GO Terms


CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6
  • Essentiality Rank: 7883
  • Expression level (log2 read counts): 1.11

Expression Distribution

  • Last modified: 2026/01/07 22:36
  • by 127.0.0.1