Gene: MKKS

Alternate names for this Gene: BBS6|HMCS|KMS|MKS

Gene Summary: This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.2

Description of this Gene: McKusick-Kaufman syndrome

Type of Gene: protein-coding

rs1297985227 in MKKS gene and BARDET-BIEDL SYNDROME 6 PMID 28753627 2017 Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

PMID 10973251 2000 Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 26900326 2016 A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.

PMID 15666242 2005 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

PMID 15731008 2005 MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.

PMID 22152675 2011 TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PMID 18094050 2008 MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 12107442 2002 Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.

PMID 28761321 2017 Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

PMID 12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.

PMID 10973238 2000 Mutations in MKKS cause Bardet-Biedl syndrome.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 11179009 2001 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.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

rs1297985227 in MKKS gene and Bardet-Biedl Syndrome PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 10973238 2000 Mutations in MKKS cause Bardet-Biedl syndrome.

PMID 18094050 2008 MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 10802661 2000 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

rs753338844 in MKKS gene and Bardet-Biedl syndrome 1 (disorder) PMID 28761321 2017 Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

rs281797258 in MKKS gene and Kaufman-McKusick syndrome PMID 10802661 2000 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

PMID 28753627 2017 Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

PMID 28753627 2017 In support, we find that the McKusick-Kaufman syndrome disease-associated allele, BBS6H84Y; A242S, maintains cilia function.

PMID 18094050 2008 MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

rs1555801973 in MKKS gene and Overgrowth PMID 26762677 2016 Genetics of human Bardet-Biedl syndrome, an updates.

PMID 10802661 2000 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

PMID 24608809 2014 Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

PMID 10465109 1999 Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

PMID 22090721 2011 McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.

rs1306231185 in MKKS gene and Progressive cone dystrophy (without rod involvement) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.