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Gene ID: 166379 | BBS12 Antibody Resource


BBS12 Antibody Resource
Gene Full Name: 
Bardet-Biedl syndrome 12
Uniprot: 
Q6ZW61
Protein Name: 
Bardet-Biedl syndrome 12 protein
Nucleotide: 
NM_001178007
Alias: 
C4orf24;
Ensembl: 
ENSG00000181004
Location: 
4q27
HPRD: 
08759
NCBI Gene: 
166379
MIM: 
610683

Summary: 
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]
Function: 
Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.
Subcellular location: 
Cell projection › cilium. Note: Located within the basal body of the primary cilium of differentiating preadipocytes.
PTM: 
Disease: 
Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP53075_P050 BBS12 Antibody (ARP53075_P050) Polyclonal Bovine, Dog, Guinea pig, Horse, Human, Mouse, Pig, Rabbit, Rat Not tested 50 ug $125 Details
Polyclonal Antibody ARP53076_P050 BBS12 Antibody (ARP53076_P050) Polyclonal Guinea pig, Human, Pig, Rabbit Not tested 50 ug $125 Details
Polyclonal Antibody OAGA00845 BBS12 antibody (OAGA00845) Polyclonal Human WB 100 ul $340 Details

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Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP53075 Bovine BBS12 antibody; Bos taurus BBS12 antibody A6QNT9 100.0%
ARP53076 Cat BBS12 antibody; Felis catus BBS12 antibody M3WKW0 92.0%
ARP53075 Cat BBS12 antibody; Felis catus BBS12 antibody M3WKW0 86.0%
ARP53075 Chimpanzee BBS12 antibody; Pan troglodytes BBS12 antibody H2QQ46 100.0%
ARP53075 Chimpanzee BBS12 antibody; Pan troglodytes BBS12 antibody K7DK76 100.0%
ARP53076 Chimpanzee BBS12 antibody; Pan troglodytes BBS12 antibody K7DK76 100.0%
ARP53076 Chimpanzee BBS12 antibody; Pan troglodytes BBS12 antibody H2QQ46 93.0%
ARP53075 Dog BBS12 antibody; Canis familiaris BBS12 antibody E2R1C7 93.0%
ARP53075 Domestic duck BBS12 antibody; Anas platyrhynchos BBS12 antibody R0LF60 79.0%
ARP53075 Duckbill platypus BBS12 antibody; Ornithorhynchus anatinus BBS12 antibody F7E5E6 86.0%
ARP53075 European domestic ferret BBS12 antibody; Mustela putorius furo BBS12 antibody M3Z5I9 93.0%
ARP53075 Giant panda BBS12 antibody; Ailuropoda melanoleuca BBS12 antibody D2HN50 93.0%
ARP53075 Green anole BBS12 antibody; Anolis carolinensis BBS12 antibody G1KY06 79.0%
ARP53075 Horse BBS12 antibody; Equus caballus BBS12 antibody F6XYK3 100.0%
ARP53075 Human BBS12 antibody; Homo sapiens BBS12 antibody C9J8H7 100.0%
ARP53075 Human BBS12 antibody; Homo sapiens BBS12 antibody Q6ZW61 100.0%
ARP53076 Human BBS12 antibody; Homo sapiens BBS12 antibody Q6ZW61 100.0%
ARP53075 Mouse BBS12 antibody; Mus musculus BBS12 antibody Q5SUD9 85.0%
ARP53075 Northern white-cheeked gibbon BBS12 antibody; Nomascus leucogenys BBS12 antibody G1S9G6 100.0%
ARP53076 Northern white-cheeked gibbon BBS12 antibody; Nomascus leucogenys BBS12 antibody G1S9G6 100.0%
ARP53075 Pig BBS12 antibody; Sus scrofa BBS12 antibody I3LB57 100.0%
ARP53076 Pig BBS12 antibody; Sus scrofa BBS12 antibody I3LB57 92.0%
ARP53075 Rabbit BBS12 antibody; Oryctolagus cuniculus BBS12 antibody G1T913 93.0%
ARP53076 Rabbit BBS12 antibody; Oryctolagus cuniculus BBS12 antibody G1T913 85.0%
ARP53075 Rat BBS12 antibody; Rattus norvegicus BBS12 antibody D3ZYF7 92.0%
ARP53075 Rhesus macaque BBS12 antibody; Macaca mulatta BBS12 antibody F7H903 100.0%
ARP53076 Rhesus macaque BBS12 antibody; Macaca mulatta BBS12 antibody F7H903 100.0%
ARP53076 Rhesus macaque BBS12 antibody; Macaca mulatta BBS12 antibody H9F6J4 100.0%
ARP53075 Small-eared galago BBS12 antibody; Otolemur garnettii BBS12 antibody H0WG94 92.0%
ARP53076 Sumatran orangutan BBS12 antibody; Pongo abelii BBS12 antibody H2PE93 100.0%
ARP53075 Sumatran orangutan BBS12 antibody; Pongo abelii BBS12 antibody Q5RC62 100.0%
ARP53076 Sumatran orangutan BBS12 antibody; Pongo abelii BBS12 antibody Q5RC62 93.0%
ARP53075 Tasmanian devil BBS12 antibody; Sarcophilus harrisii BBS12 antibody G3WC39 85.0%
ARP53075 Thirteen-lined ground squirrel BBS12 antibody; Spermophilus tridecemlineatus BBS12 antibody I3MFB6 93.0%
ARP53075 White-tufted-ear marmoset BBS12 antibody; Callithrix jacchus BBS12 antibody F7C208 100.0%
ARP53076 White-tufted-ear marmoset BBS12 antibody; Callithrix jacchus BBS12 antibody F7C208 100.0%
ARP53075 White-tufted-ear marmoset BBS12 antibody; Callithrix jacchus BBS12 antibody U3C3Y1 100.0%
ARP53076 White-tufted-ear marmoset BBS12 antibody; Callithrix jacchus BBS12 antibody U3C3Y1 100.0%
ARP53075 Zebra finch BBS12 antibody; Taeniopygia guttata BBS12 antibody H0YUV4 79.0%

Tissue & Cell Line Gene Expression Data