Bardet–Biedl syndrome 1 protein is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''BBS1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
BBS1 is part of the
BBSome The BBSome is an octameric protein complex. It is a component of the basal body and is involved in trafficking cargos to the primary cilium. The BBSome is a complex of seven Bardet–Biedl syndrome (BBS) proteins: BBS1, BBS2, BBS4, BBS5, BBS7, ...
complex, which required for
ciliogenesis
Ciliogenesis is defined as the building of the cell's antenna ( primary cilia) or extracellular fluid mediation mechanism ( motile cilium). It includes the assembly and disassembly of the cilia during the cell cycle. Cilia are important organell ...
.
Mutations in this gene have been observed in patients with the major form (type 1) of
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 i ...
.
History
, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.
References
External links
GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome
External links
*
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
{{protein-stub