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McKusick Kaufman Syndrome Protein (MKKS)

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KMS; BBS6; HMCS; MKS; McKusick-Kaufman/Bardet-Biedl Syndromes Putative Chaperonin; Bardet-Biedl syndrome 6 protein

McKusick Kaufman Syndrome Protein (MKKS)
CCC L733
HGNC 7108
MGI 1891836
PubMed 10973238
RGD 1308814
UniProt Q9NPJ1
Wiki MKKS
MKKS may have a role in protein processing in limb, cardiac and reproductive system development. The Old Order Amish patient was found to be homozygous for an allele that had 2 missense substitutions, and the non-Amish patient was compound heterozygous for a frameshift mutation predicting premature protein truncation and a distinct missense mutation. The MKKS transcript has a predicted open reading frame of 570 amino acids Northern blot analysis revealed broad expression of a 2.4-kb transcript in human adult and fetal tissues. The MKKS predicted protein showed amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac, and reproductive system development. Its closest protein relative is the alpha subunit of the Thermoplasma acidophilum thermosome.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant McKusick Kaufman Syndrome Protein (MKKS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to McKusick Kaufman Syndrome Protein (MKKS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to McKusick Kaufman Syndrome Protein (MKKS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for McKusick Kaufman Syndrome Protein (MKKS) CLIA Kit Customized Service Offer
n/a ELISA Kit for McKusick Kaufman Syndrome Protein (MKKS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant McKusick Kaufman Syndrome Protein (MKKS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to McKusick Kaufman Syndrome Protein (MKKS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to McKusick Kaufman Syndrome Protein (MKKS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for McKusick Kaufman Syndrome Protein (MKKS) CLIA Kit Customized Service Offer
n/a ELISA Kit for McKusick Kaufman Syndrome Protein (MKKS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant McKusick Kaufman Syndrome Protein (MKKS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to McKusick Kaufman Syndrome Protein (MKKS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to McKusick Kaufman Syndrome Protein (MKKS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for McKusick Kaufman Syndrome Protein (MKKS) CLIA Kit Customized Service Offer
n/a ELISA Kit for McKusick Kaufman Syndrome Protein (MKKS) ELISA Kit Customized Service Offer
  1. "Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome."Nat. Genet. 25:79-82(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and comparative analysis of human chromosome 20." Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
  5. "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. 118:1007-1020(2005) [PubMed] [Europe PMC] [Abstract]
  6. "Dissection of epistasis in oligogenic Bardet-Biedl syndrome."Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract]
  7. "MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination."Mol. Biol. Cell 19:899-911(2008) [PubMed] [Europe PMC] [Abstract]
  8. "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly."Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010) [PubMed] [Europe PMC] [Abstract]
  9. "Mutations in MKKS cause Bardet-Biedl syndrome."Nat. Genet. 26:15-16(2000) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome."Nat. Genet. 26:67-70(2000) [PubMed] [Europe PMC] [Abstract]
  11. "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. 68:606-616(2001) [PubMed] [Europe PMC] [Abstract]
  12. "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder."Science 293:2256-2259(2001) [PubMed] [Europe PMC] [Abstract]
  13. "Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients."Hum. Genet. 110:561-567(2002) [PubMed] [Europe PMC] [Abstract]
  14. "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome."Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract]
  15. "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. 12:1651-1659(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Further support for digenic inheritance in Bardet-Biedl syndrome."J. Med. Genet. 40:E104-E104(2003) [PubMed] [Europe PMC] [Abstract]
  17. "Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome." Am. J. Hum. Genet. 76:493-504(2005) [PubMed] [Europe PMC] [Abstract]
  18. "Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort." Eur. J. Hum. Genet. 13:607-616(2005) [PubMed] [Europe PMC] [Abstract]
  19. "Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity."J. Clin. Endocrinol. Metab. 90:225-230(2005) [PubMed] [Europe PMC] [Abstract]
  20. "Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes."Hum. Mutat. 31:429-436(2010) [PubMed] [Europe PMC] [Abstract]
  21. "BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition." Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract]
  22. "TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone." Am. J. Hum. Genet. 89:713-730(2011) [PubMed] [Europe PMC] [Abstract]