Bardet Biedl Syndrome Protein 9 (BBS9)

The expression of the Bardet-Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.the B1 gene contains 24 exons and spans more than 700 kb. Exon 23 is part of a mammalian apparent long-terminal repeat retrotransposon.

The deduced 802-amino acid protein is encoded by a 3.5-kb clone and shows characteristics of a globular intracellular protein. Northern blot analysis using sequence-specific probes detected multiple transcripts of 1.2 to 4.4 kb expressed in the SaoS-2/B10 cell line and several normal tissues. Expression was detected in adult heart, skeletal muscle, lung, liver, kidney, placenta, and brain, and in fetal kidney, lung, liver, and brain.