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]Sequence: SILKDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQIHEGNTNFLIPEYHCILEEADHLQEEYKKQPAHLERLYG
|BBS7 (Human) Recombinant Protein (Q01)|
|Antibody Production, Enzyme-linked Immunoabsorbent Assay, Protein Array, Western Blot (Recombinant protein)|
|Store at -80°C. Aliquot to avoid repeated freezing and thawing.|
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