Background：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 mental retardation. 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.
仕様
Synonyms：1300007O09Rik,AI452285,Bardet Biedl syndrome 10 protein ,Bardet Biedl syndrome 10 protein homolog,Bardet-Biedl syndrome 10,C12orf58 ,Chromosome 12 open reading frame 58,FLJ23560,RGD1560748
Host：Rabbit
Reactivity：Human,Mouse
Applications：WB
Concentration：1mg/ml
Immunogen：Recombinant protein of human BBS10
Purification Method：Affinity purification
Clonality：Polyclonal
Conjugation：Unconjugated
Buffer：Buffer： PBS with 0.02％ sodium azide, 50％ glycerol, pH7.3.
Dilution：WB 1：200 - 1：3000
Gene_ID（human）：79738
Swissprot：Q8TAM1
Isotype：IgG
Research Areas：Epigenetics and Nuclear Signaling, Neuroscience
