XB-GENEPAGE-5962522
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bbs12
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Bardet-Biedl syndrome 12
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Nomenclature history )
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chaperonin complex component
AI Protein Function
:
bbs12 encodes a chaperonin‑like protein that participates in assembly of the BBSome complex and is required for ciliogenesis. It localizes to basal bodies, centrosomes and the cytoplasm of ciliated cel...[+]
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Diseases:
Disease Ontology:
Bardet-Biedl syndrome 1
MIM:
BARDET-BIEDL SYNDROME 1; BBS1
External Links:
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