Bardet–Biedl syndrome 10, also known as BBS10 is a human
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II
chaperonin
HSP60, also known as chaperonins (Cpn), is a family of heat shock proteins originally sorted by their 60kDa molecular mass. They prevent misfolding of proteins during stressful situations such as high heat, by assisting protein folding. HSP60 b ...
s. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs
ciliogenesis
Ciliogenesis is defined as the building of the cell's Cellular antenna, antenna (primary cilium, primary cilia) or extracellular fluid mediation mechanism (motile cilia, motile cilium). It includes the assembly and disassembly of the cilia duri ...
in pre
adipocyte
Adipocytes, also known as lipocytes and fat cells, are the cell (biology), cells that primarily compose adipose tissue, specialized in storing energy as fat. Adipocytes are derived from mesenchymal stem cells which give rise to adipocytes through ...
s.
Clinical significance
Mutations in this gene are associated with the
Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in ...
.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
External links
GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome*
*
{{gene-12-stub