McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin 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 ''MKKS''
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 ...
.
This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with
Bardet–Biedl syndrome type 6 and
McKusick–Kaufman syndrome
McKusick–Kaufman syndrome is a genetic condition associated with MKKS.
The condition is named for Dr. Robert L. Kaufman and Victor McKusick. It is sometimes known by the abbreviation MKS. In infancy it can be difficult to distinguish between MK ...
. Two transcript variants encoding the same protein have been identified for this gene.
References
External links
GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndromeGeneReviews/NIH/NCBI/UW entry on McKusick–Kaufman syndrome
Further reading
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