BBS9
Encyclopedia
Bardet-Biedl syndrome 9 is a protein
that in humans is encoded by the BBS9 gene
.
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.
Mutations in this gene are associated with the Bardet-Biedl syndrome
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the BBS9 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
The expression of the Bardet-Biedl syndrome 9 protein is downregulated by parathyroid hormone
Parathyroid hormone
Parathyroid hormone , parathormone or parathyrin, is secreted by the chief cells of the parathyroid glands as a polypeptide containing 84 amino acids...
in osteoblastic
Osteoblast
Osteoblasts are mononucleate cells that are responsible for bone formation; in essence, osteoblasts are specialized fibroblasts that in addition to fibroblastic products, express bone sialoprotein and osteocalcin.Osteoblasts produce a matrix of osteoid, which is composed mainly of Type I collagen...
cells, and therefore, is thought to be involved in parathyroid hormone action in bones.
Mutations in this gene are associated with the Bardet-Biedl syndrome
Bardet-Biedl syndrome
The Bardet–Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.-Summary of the...
.