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McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKSgene.[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
↑Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG (Apr 1998). "Genetic and physical mapping of the McKusick-Kaufman syndrome". Hum Mol Genet. 7 (3): 475–81. doi:10.1093/hmg/7.3.475. PMID9467007.
Stone DL, Slavotinek A, Bouffard GG, et al. (2000). "Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome". Nat. Genet. 25 (1): 79–82. doi:10.1038/75637. PMID10802661.
Slavotinek AM, Stone EM, Mykytyn K, et al. (2000). "Mutations in MKKS cause Bardet-Biedl syndrome". Nat. Genet. 26 (1): 15–6. doi:10.1038/79116. PMID10973238.
Katsanis N, Beales PL, Woods MO, et al. (2000). "Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome". Nat. Genet. 26 (1): 67–70. doi:10.1038/79201. PMID10973251.
Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder". Science. 293 (5538): 2256–9. doi:10.1126/science.1063525. PMID11567139.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID11780052.
Slavotinek AM, Searby C, Al-Gazali L, et al. (2002). "Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients". Hum. Genet. 110 (6): 561–7. doi:10.1007/s00439-002-0733-3. PMID12107442.
Badano JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus". Hum. Mol. Genet. 12 (14): 1651–9. doi:10.1093/hmg/ddg188. PMID12837689.
Kim JC, Ou YY, Badano JL, et al. (2005). "MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis". J. Cell Sci. 118 (Pt 5): 1007–20. doi:10.1242/jcs.01676. PMID15731008.
