Peptide sequence: ENAIAQVPRP GTSLKLPGTN QTGGPSQAVR PITQAGRPIT GFLRPSTQSG
Sequence homology: Cow: 93%; Dog: 93%; Guinea Pig: 93%; Horse: 86%; Human: 100%; Mouse: 93%; Rabbit: 86%; Rat: 100%
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. Alternate transcriptional splice variants have been characterized.
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Protein Aliases: Bardet-Biedl syndrome 8 protein; Bardet-Biedl syndrome type 8; Tetratricopeptide repeat protein 8; TPR repeat protein 8
Gene Aliases: BBS8; RP51; TTC8
UniProt ID: (Human) Q8TAM2
Entrez Gene ID: (Human) 123016