Sequence of this protein is as follows: MSSEMEPLLL AWSYFRRRKF QLCADLCTQM LEKSPYDQAA WILKARALTE MVYIDEIDVD QEGIAEMMLD ENAIAQVPRP GTSLKLPGTN QTGGPSQAVR PITQAGRPIT GFLRPSTQSG RPGTMEQAIR TPRTAYTARP ITSSSGRFVR LGTASMLTSP DGPFINLSRL NLTKYSQKPK LAKALFEYIF HHENDVKTAL DLAALSTEHS QYKDWWWKVQ IGKCYYRLGM YREAEKQFKS ALKQQEMVDT FLYLAKVYVS LDQPVTALNL FKQGLDKFPG EVTLLCGIAR IYEEMNNMSS AAEYYKEVLK QDNTHVEAIA CIGSNHFYSD QPEIALRFYR RLLQMGIYNG QLFNNLGLCC FYAQQYDMTL TSFERALSLA ENEEEAADVW YNLGHVAVGI GDTNLAHQCF RLALVNNNNH AEAYNNLAVL EMRKGHVEQA RALLQTASSL APHMYEPHFN FATISDKIGD LQRSYVAAQK SEAAFPDHVD TQHLIKQLRQ HFAML
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