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Proteintech
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Immunogen sequence: MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN L
BBS4 contains tetratricopeptide repeats (TPR), similar to O-linked N-acetyglucosamine transferase. Mutations in the gene encoding this protein have been observed in patients with Bardet-Biedl syndrome type 4. BBS4 may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Bardet-Biedl syndrome 4 protein; BBSome complex member BBS4
Gene Aliases: BBS4
UniProt ID: (Human) Q96RK4
Entrez Gene ID: (Human) 585
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