Bardet–Biedl syndrome 1 protein is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''BBS1''
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 ...
.
BBS1 is part of the
BBSome complex, which required for
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 ...
.
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 in ...
.
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
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