NP_078961
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
Bardet-Biedl syndrome 10 protein
NCBI Official Synonym Full Names
Bardet-Biedl syndrome 10
NCBI Official Synonym Symbols
NCBI Protein Information
Bardet-Biedl syndrome 10 protein
UniProt Protein Name
Bardet-Biedl syndrome 10 protein
UniProt Synonym Gene Names
UniProt Entry Name
BBS10_HUMAN
NCBI Summary for BBS10
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
Research Articles on BBS10
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Products associated with BBS10 blocking peptide
Pathways associated with BBS10 blocking peptide
Diseases associated with BBS10 blocking peptide
Organs/Tissues associated with BBS10 blocking peptide
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