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Protein structure
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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| 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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| Invitrogen Antibodies | BS-11510R |
Polyclonal |
WB
EL
IHC
FC
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| Atlas Antibodies | HPA003310 |
4 references | Polyclonal |
IHC
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| NovoPro Bioscience Inc. | 108376 |
Polyclonal |
WB
EL
IP
|
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