Description_x000D_ General description_x000D_ 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)_x000D_ Immunogen_x000D_ BBS7 (NP_060660, 574 a.a. ~ 672 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa._x000D_ Sequence_x000D_ SILKDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQIHEGNTNFLIPEYHCILEEADHLQEEYKKQPAHLERLYG_x000D_ Physical form_x000D_ Solution in phosphate buffered saline, pH 7.4_x000D_ Legal Information_x000D_ GenBank is a registered trademark of United States Department of Health and Human Services