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Proteintech
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Immunogen sequence: MAEERVATR TQFPVSTESQ KPRQKKAPEF PILEKQNWLI HLHYIRKDYE ACKAVIKEQL QETQGLCEYA IYVQALIFRL EGNIQESLEL FQTCAVLSPQ SADNLKQVAR SLFLLGKHKA AIEVYNEAAK LNQKDWEISH NLGVCYIYLK QFNKAQDQLH NALNLNRHDL TYIMLGKIHL LEGDLDKAIE VYKKAVEFSP ENTELLTTLG LLYLQLGIYQ KAFEHLGNAL TYDPTNYKAI LAAGSMMQTH GDFDVALTKY RVVACAVPES PPLWNNIGMC FFGKKKYVAA ISCLKRANYL APFDWKILYN LGLVHLTMQQ YASAFHFLSA AINFQPKMGE LYMLLAVALT NL (1-351 aa encoded by BC027624)
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Bardet-Biedl syndrome 4 homolog; Bardet-Biedl syndrome 4 protein; Bardet-Biedl syndrome 4 protein homolog; BBSome complex member BBS4
基因别名: AW537059; AW742241; BBS4; D9Ertd464e
UniProt ID: (Human) Q96RK4, (Mouse) Q8C1Z7
Entrez Gene ID: (Human) 585, (Mouse) 102774, (Rat) 300754