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- rabbit polyclonal IgG, 200µg/ml
- epitope corresponding to amino acids 33-336 mapping near the N-terminus of BBS4 of human origin
- recommended for detection of BBS4 of mouse, rat and human origin by WB, IP, IF and ELISA; also reactive with additional species, including equine, canine, bovine and porcine
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Ordering Information
Recommended Support Products:
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| Species |
Gene Name |
Gene ID |
Chromosome Location |
Isoform (mRNA) Accession # |
Protein Accession # |
OMIM™ Number |
| Human |
BBS4 |
585 |
15q24.1 |
NM_033028 |
Q96RK4
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600374 |
| Mouse |
Bbs4 |
102774 |
9 B |
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Q8C1Z7
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N/A |
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BBS4 Background Information
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder; BBS genes map to eight genetic loci and encode eight proteins, BBS1-BBS8. Five BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS4 is expressed in the olfactory epithelium and localizes to the centriolar satellites of centrosomes and basal bodies of primary cilia. BBS4 regulates the p150 subunit of the dynein transport machinery (DCTN1) to attract pericentriolar material-1 protein (PCM1) and its associated components to the satellites. Loss of BBS4 is correlated with obesity caused by abnormal lipid profiles, liver dysfunction, elevated insulin, and abnormal leptin levels. |
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BBS4 (H-304)
Click on image to enlarge
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BBS4 (H-304): sc-67201. Western blot analysis of BBS4 expression in mouse heart (A), rat heart (B) and rat kidney (C) tissue extracts.
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