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- Table of Contents
Facts about Bardet-Biedl syndrome 4 protein.
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.
Human | |
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Gene Name: | BBS4 |
Uniprot: | Q96RK4 |
Entrez: | 585 |
Belongs to: |
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BBS4 family |
Bardet-Biedl syndrome 4 protein; Bardet-Biedl syndrome 4
Mass (kDA):
58.282 kDA
Human | |
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Location: | 15q24.1 |
Sequence: | 15; NC_000015.10 (72686179..72738476) |
Ubiquitously expressed. The highest level of expression is found in the kidney.
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell projection, cilium, flagellum. Cell projection, cilium. Localizes to the pericentriolar material. Centrosomal localization requires dynein (By similarity). Localizes to the connecting cilium of photoreceptor cells (By similarity).
PMID: 11381270 by Mykytyn K., et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
PMID: 15497446 by Ye X., et al. Cloning and characterization of a splice variant of human Bardet- Biedl syndrome 4 gene (BBS4).