Bbs12 - Bardet-Biedl syndrome 12 (human) Gene
Also Known as Gm407; Gm721; Gm1805
Species: Mus musculus
Summary
Predicted to enable ATP binding activity and ATP hydrolysis activity. Acts upstream of or within several processes, including intraciliary transport; negative regulation of fat cell differentiation; and photoreceptor cell maintenance. Predicted to be located in cilium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 12. Orthologous to human BBS12 (Bardet-Biedl syndrome 12). [provided by Alliance of Genome Resources, Apr 2022]
Bbs12 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001008502.2 | NP_001008502.2 | Bardet-Biedl syndrome 12 protein homolog isoform 1 |
| NM_001255992.1 | NP_001242921.1 | Bardet-Biedl syndrome 12 protein homolog isoform 2 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within eating behavior |
IMP
IMP: Inferred from mutant phenotype
|
22958920 | MGI |
| acts upstream of fat cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
22958920 | MGI |
| acts upstream of or within intraciliary transport |
IMP
IMP: Inferred from mutant phenotype
|
22869374 | MGI |
| acts upstream of or within negative regulation of fat cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
22958920 | MGI |
| acts upstream of or within negative regulation of stem cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
22958920 | MGI |
| acts upstream of or within photoreceptor cell maintenance |
IMP
IMP: Inferred from mutant phenotype
|
22869374 | MGI |
| acts upstream of stem cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
22958920 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
Bardet-Biedl syndrome 12 protein homolog |
|