MKKS Gene

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Xu, R. MKKS Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/3822 (accessed on 28 September 2026).

Xu R. MKKS Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/3822. Accessed September 28, 2026.

Xu, Rita. "MKKS Gene" Encyclopedia, https://encyclopedia.pub/entry/3822 (accessed September 28, 2026).

Xu, R. (2020, December 22). MKKS Gene. In Encyclopedia. https://encyclopedia.pub/entry/3822

Xu, Rita. "MKKS Gene." Encyclopedia. Web. 22 December, 2020.

MKKS Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/mkks

McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.

genetic conditions

References

Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito D, Okawa K, Kimura H, CyrDM, Kubota H, Nagata K. MKKS is a centrosome-shuttling protein degraded bydisease-causing mutations via CHIP-mediated ubiquitination. Mol Biol Cell. 2008Mar;19(3):899-911.
Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ,Davidson WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy andrenal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000Sep;26(1):67-70.
Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL,Archibald JM, Katsanis N, Rattner JB, Leroux MR. MKKS/BBS6, a divergentchaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci. 2005 Mar1;118(Pt 5):1007-20.
Slavotinek AM, Biesecker LG. Unfolding the role of chaperones and chaperonins in human disease. Trends Genet. 2001 Sep;17(9):528-35. Review.
Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C,Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome andselected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun;110(6):561-7.
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E,Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Mutations in MKKS causeBardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):15-6. Erratum in: Nat Genet 2001Jun;28(2):193.
Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M,Biesecker LG. Mutation of a gene encoding a putative chaperonin causesMcKusick-Kaufman syndrome. Nat Genet. 2000 May;25(1):79-82.

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Subjects: Genetics & Heredity

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Update Date: 22 Dec 2020

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