BBS12

Chr 4

Bardet-Biedl syndrome 12

Also known as: C4orf24

NCBI Gene: 166379 ENSG00000181004 UniProt: Q6ZW61

The protein functions as a molecular chaperone within the chaperonin-containing T-complex (TRiC), facilitating protein folding through ATP hydrolysis and playing a role in ciliogenesis and adipocyte differentiation. Mutations cause Bardet-Biedl syndrome type 12, a multisystem ciliopathy affecting the eyes, kidneys, genitourinary system, and causing obesity and polydactyly. The condition follows autosomal recessive inheritance.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBardet-Biedl syndrome 12

Clinical highlights

Gene-disease validity (ClinGen)

BBS12-related ciliopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — BBS12