MuScle-logoMuScle - Molecule ID B1415

geneBBS12
nameBardet-Biedl syndrome 12 protein
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
BBS12_HUMANQ6ZW61ENSG00000181004166379Hs.400698209900, 610683

Functions and classifications

GOC:cilium, F:ATP binding, P:cellular protein metabolic process, P:chaperone-mediated protein complex assembly, P:negative regulation of fat cell differentiation
UniProtBardet-Biedl syndrome, Cell projection, Ciliopathy, Cilium, Complete proteome, Disease mutation, Mental retardation, Obesity, Polymorphism, Reference proteome, ATP-binding, Chaperone, Nucleotide-binding
PADBDIS: disease

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valuePubMed/DOI
Exp20921521Homo sapiens10Blood PPMS_(PRF1_gene_Risk_haplotype) (Multiple sclerosis)0.600.03508320921521
Exp23895517AHomo sapiens19BloodT-cellsRRMS_(relapsing-remitting_MS) (Multiple sclerosis)1.072.69E-0223895517

Compile date 09-07-2016© MuScle project