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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''MKKS''
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 ...
.
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 (MKS) is a rare genetic condition caused by mutations in the '' MKKS'' gene, which affect how cells develop and function. It is named after Dr. Robert L. Kaufman and Victor McKusick, who studied the condition and helped ...
. 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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