General description
Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. (provided by RefSeq)
Immunogen
BBS7 (NP_060660, 574 a.a. ~ 672 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceSILKDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQIHEGNTNFLIPEYHCILEEADHLQEEYKKQPAHLERLYG
Legal Information
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Physical form
Solution in phosphate buffered saline, pH 7.4
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