|Positive WB detected in||mouse retina tissue, mouse testis tissue, human testis tissue, rat testis tissue, mouse eye tissue|
|Positive IP detected in||mouse testis tissue|
|Positive IHC detected in||human testis tissue, mouse kidney tissue, human stomach tissue, human kidney tissue, mouse testis tissue|
Note: suggested antigen retrieval with TE buffer pH 9.0; (*) Alternatively, antigen retrieval may be performed with citrate buffer pH 6.0
|Western Blot (WB)||WB : 1:500-1:1000|
|Immunoprecipitation (IP)||IP : 0.5-4.0 ug for IP and 1:500-1:1000 for WB|
|Immunohistochemistry (IHC)||IHC : 1:50-1:500|
|Sample-dependent, check data in validation data gallery|
14569-1-AP targets BBS5 in WB, IP, IHC, IF, ELISA applications and shows reactivity with human, mouse, rat samples.
|Tested Reactivity||human, mouse, rat|
|Cited Reactivity||human, mouse, rat|
|Host / Isotype||Rabbit / IgG|
|Immunogen||BBS5 fusion protein Ag6153|
|Full Name||Bardet-Biedl syndrome 5|
|Calculated molecular weight||39 kDa|
|Observed molecular weight||39 kDa|
|GenBank accession number||BC044593|
|Gene ID (NCBI)||129880|
|Purification Method||Antigen affinity purification|
|Storage Buffer||PBS with 0.02% sodium azide and 50% glycerol pH 7.3.|
|Storage Conditions||Store at -20°C. Stable for one year after shipment. Aliquoting is unnecessary for -20oC storage.|
BBS5 encodes a protein that has been directly linked to Bardet-Biedl syndrome. Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. Other associated clinical findings in BBS patients include diabetes, hypertension and congenital heart defects. BBS expression varies both within and between families and diagnosis is often difficult. Experimentation in non-human eukaryotes suggests that BBS5 is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
Invest Ophthalmol Vis Sci
Essential Role of the Chaperonin CCT in Rod Outer Segment Biogenesis.
J Biol Chem
DAZ interacting protein 1 (Dzip1) phosphorylation by Polo-like kinase 1 (Plk1) regulates the centriolar satellites localization of the BBSome during the cell cycle.
Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells.
Inhibition of Hedgehog signaling suppresses proliferation and microcyst formation of human Autosomal Dominant Polycystic Kidney Disease cells.
Chibby functions to preserve normal ciliary morphology through the regulation of intraflagellar transport in airway ciliated cells.