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BBS7 Antibodies
AND BBS7 ELISA kits, BBS7 Proteins
Many biological assays use antibodies to detect BBS7, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with BBS7 in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop BBS7 antibodies...
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BBS7 Overview
Facts about Bardet-Biedl syndrome 7 protein.
Bardet-Biedl syndrome 7 protein (BBS7)
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function.
This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane.
Gene Information
| Human | |
|---|---|
| Gene Name: | BBS7 |
| Uniprot: | Q8IWZ6 |
| Entrez: | 55212 |
Family
| Belongs to: |
|---|
| No superfamily |
Alternative Names
Bardet-Biedl syndrome 7; BBS2L1Bardet-Biedl syndrome 7 protein; BBS2-like 1; BBS2-like protein 1; FLJ10715
Molecular Weight
Mass (kDA):
80.353 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 4q27 |
| Sequence: | 4; NC_000004.12 (121824329..121870497, complement) |
Tissue Specificity
Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.
Subcellular Localizations
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cytoplasm, cytoskeleton, cilium basal body.
Diseases
- Bardet-biedl Syndrome
- Polydactyly
- Obesity
- Diabetes Mellitus
- Dystrophy
- Hypogonadism
- Congenital Heart Defects
- Retinitis Pigmentosa
- Hypertensive Disease
- Retinal Dystrophies
- Kaufman-mckusick Syndrome
Interacting Proteins
- ALDOB
- BBS1
- BBS10
- BBS12
- BBS2
- CCT2
- IQCB1
- JUN
Pathways
- Transport
- Intraflagellar Transport
- Pathogenesis
- Translation
- Melanosome Transport
- Pigmentation
- Membrane Biogenesis
- Nuclear Export
PTMs
Research Areas
- Vision
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/BBS7
bosterbio.com/bosterbio-gene-info-cards/BBS7
References
PMID: 12567324 by Badano J.L., et al. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
PMID: 16327777 by Badano J.L., et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome.