Entrez 8195 | Ensembl ENSG00000125863 | |
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Aliases MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome External IDs MGI: 1891836 HomoloGene: 10318 GeneCards: MKKS |
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
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.
References
MKKS Wikipedia(Text) CC BY-SA