MKKS
Template:Cs1 config Template:Short description Script error: No such module "about". Template:Infobox gene McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.[1][2]
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. Two transcript variants encoding the same protein have been identified for this gene.[2]
References
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External links
- GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome
- GeneReviews/NIH/NCBI/UW entry on McKusick–Kaufman syndrome
Further reading
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