Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | BBS12 | contributors: mct/npt - updated : 21-12-2020 |
HGNC name | Bardet-Biedl syndrome 12 |
HGNC id | 26648 |
|
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
HOMOLOGY |
intraspecies | homolog to BBS10, BBS6 |
Homologene |
FAMILY | |
|
CATEGORY | chaperone/stress |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component | part of a complex composed of three chaperonin-like BBS proteins (MKKS, BBS10, and BBS12) that are required for BBSome assembly (Seo 2010) |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
Other | BBS12 inactivation facilitated adipogenesis, increased insulin sensitivity, and glucose utilization |
ASSOCIATED DISORDERS |
corresponding disease(s) | BBS12 |
Other morbid association(s) |
|
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |