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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Bardet-Biedl syndrome 1 homolog; Bardet-Biedl syndrome 1 protein; Bardet-Biedl syndrome 1 protein homolog; BBS2-like protein 2; BBSome complex member BBS1
Gene Aliases: AI451249; BBS1; BBS2L2; D19Ertd609e
UniProt ID: (Human) Q8NFJ9, (Mouse) Q3V3N7
Entrez Gene ID: (Human) 582, (Mouse) 52028
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