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- Table of Contents
Facts about Bardet-Biedl syndrome 7 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: | BBS7 |
Uniprot: | Q8IWZ6 |
Entrez: | 55212 |
Belongs to: |
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No superfamily |
Bardet-Biedl syndrome 7; BBS2L1Bardet-Biedl syndrome 7 protein; BBS2-like 1; BBS2-like protein 1; FLJ10715
Mass (kDA):
80.353 kDA
Human | |
---|---|
Location: | 4q27 |
Sequence: | 4; NC_000004.12 (121824329..121870497, complement) |
Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cytoplasm, cytoskeleton, cilium basal body.
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.