Gene Synopsis:bbs-9 is orthologous to the human parathyroid hormone-responsive B1 gene, also known as BBS9; bbs-9 apart...required, similar to bbs-1, bbs-5, and bbs-8, for the regulation of insulin release from sensory neurons; bbs...requires the Rab27/AEX-6 dense-core vesicle exocytosis machinery; the metabolic and ciliary phenotypes of bbs
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.
Definition:A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.