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Proteintech
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Immunogen sequence: SCLVLGTEN KELLVLDPEA FTILAKMSLP SVPVFLEVSG QFDVEFRLAA ACRNGNIYIL RRDSKHPKYC IELSAQPVGL IRVHKVLVVG STQDSLHGFT HKGKKLWTVQ MPAAILTMNL LEQHSRGLQA VMAGLANGEV RIYRDKALLN VIHTPDAVTS LCFGRYGRED NTLIMTTRGG GLIIKILKRT AMFVEGGSEV GPPPAQAMKL NVPRKTRLYV DQTLREREAG TAMHRAFQTD LYLLRLRAAR AYLQALESSL SPLSTTAREP LKLHAVVQGL GPTFKLTLHL QNTSTTRPVL GLLVCFLYNE ALYSLPRAFF KVPLLVPGLN YPLETFVESL SNKGISDIIK VGPALVPRGR (105-463 aa encoded by BC047642)
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
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 1 homolog; Bardet-Biedl syndrome 1 protein; Bardet-Biedl syndrome 1 protein homolog; BBS2-like protein 2; BBSome complex member BBS1
基因别名: AI451249; BBS1; BBS2L2; D19Ertd609e
UniProt ID: (Human) Q8NFJ9, (Mouse) Q3V3N7
Entrez Gene ID: (Human) 582, (Mouse) 52028