BBS12
Sign in to saveAlso known as C4orf24, Bardet-Biedl syndrome 12
Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.
Gene data
BBS12- Name
- Bardet-Biedl syndrome 12
- Type
- protein-coding
- Position
- 122,732,653–122,746,078 (+)
- Aliases
- C4orf24
- Ensembl
- ENSG00000181004
- RefSeq RNA
- NM_001178007.2, NM_152618.3, XM_011531680.3, XM_054349085.1, XR_007096378.1
- RefSeq protein
- NP_001171478.1, NP_689831.2, XP_011529982.1, XP_054205060.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
Bardet-Biedl syndrome 12
- Symbol
- BBS12
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:122,732,653-122,746,078
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- exact match
- identifiers.org/ncbigene/166379
- HomoloGene ID
- 17634
- found in taxon
- Homo sapiens
- genomic end
- 122744942
- genomic start
- 123653857
- chromosome
- human chromosome 4
- cytogenetic location
- 4q27
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- Further reading
- External links
Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.
Mutations in this gene are associated with the Bardet–Biedl syndrome.
Excerpted from Wikipedia’s “BBS12” article, available under the CC BY-SA 4.0 licence.