Biology:MKKS
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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
- ↑ "Genetic and physical mapping of the McKusick-Kaufman syndrome". Hum Mol Genet 7 (3): 475–81. Apr 1998. doi:10.1093/hmg/7.3.475. PMID 9467007.
- ↑ 2.0 2.1 "Entrez Gene: MKKS McKusick-Kaufman syndrome". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8195.
External links
- GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome
- GeneReviews/NIH/NCBI/UW entry on McKusick–Kaufman syndrome
Further reading
- "Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.". Nat. Genet. 25 (1): 79–82. 2000. doi:10.1038/75637. PMID 10802661.
- "Mutations in MKKS cause Bardet-Biedl syndrome.". Nat. Genet. 26 (1): 15–6. 2000. doi:10.1038/79116. PMID 10973238.
- "Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet–Biedl syndrome.". Nat. Genet. 26 (1): 67–70. 2000. doi:10.1038/79201. PMID 10973251.
- "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
- "Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.". Am. J. Hum. Genet. 68 (3): 606–16. 2001. doi:10.1086/318794. PMID 11179009.
- "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. 2001. doi:10.1101/gr.GR1547R. PMID 11230166.
- "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. 2001. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.". Science 293 (5538): 2256–9. 2001. doi:10.1126/science.1063525. PMID 11567139. Bibcode: 2001Sci...293.2256K.
- "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865–71. 2002. doi:10.1038/414865a. PMID 11780052. Bibcode: 2001Natur.414..865D.
- "Mutation analysis of the MKKS gene in McKusick–Kaufman syndrome and selected Bardet-Biedl syndrome patients.". Hum. Genet. 110 (6): 561–7. 2002. doi:10.1007/s00439-002-0733-3. PMID 12107442. https://zenodo.org/record/1232759.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "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. 2003. doi:10.1093/hmg/ddg188. PMID 12837689.
- "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "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. 2005. doi:10.1242/jcs.01676. PMID 15731008.
- "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. 2006. doi:10.1093/nar/gkj139. PMID 16381901.
- "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
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