It’s the GeneMedi’s summary page for Target/Biomarker Introduction of TTC8. The page also collects GeneMedi’s different modalities and formats products for TTC8 in therapeutics/drug discovery and IVD diagnostics, which is including antibody, ADC, bispecific, antigen, ORF vector, VLP, etc. With GeneMedi’s target-insight database-GM ITD database, the TTC8 target is also connected to human indications/diseases/conditions/MOA.
Target sublocation: Introcelluar Protein.
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]