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TTC8
Tetratricopeptide repeat domain 8BBS8, RP51
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Top validated antibodies |
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| Biorbyt |  orb155800 |
Polyclonal |
WB
ICC
IHC
FC
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| Invitrogen Antibodies | 12505-1-AP |
Polyclonal |
WB
IP
OA
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| Proteintech Group | 12505-1-AP |
Polyclonal |
WB
EL
IP
|
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| Novus Biologicals | NBP1-49869 |
1 references | Polyclonal |
WB
EL
|
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| NSJ Bioreagents | RQ7211 |
Polyclonal |
WB
EL
FC
|
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