Bardet–Biedl syndrome 7 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, respo ...
that in humans is encoded by the ''BBS7''
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 ba ...
.
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 so ...
.
References
Further reading
*
*
*
*
*
*
*
*
*
*
External links
GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome*
*
{{gene-4-stub