MKKS
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). 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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<references />, or <references group="..." />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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