MKKS Antibody

1. Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome. PMID: 28761321
2. found compound heterozygous variants (c.1192C>T, p.Q398* and c.1175C>T, p.T392M) in MKKS in both the siblings, and these were likely to be pathogenic variants PMID: 28624958
3. We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly. PMID: 26900326
4. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. PMID: 24400638
5. Novel mutation (c.1272+1G>A) in BBS6 found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
6. Findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels. PMID: 23716571
7. Three uORFs (uMKKS0, uMKKS1 and uMKKS2) are reported, and they can repress the translation of the downstream MKKS ORF. uMKKS1 and uMKKS2 are highly conserved in mammals and they encode two different mitochondrial membrane proteins respectively. PMID: 23671934
8. Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families. PMID: 20472660
9. genetic variations at MKKS gene influence the risk of metabolic syndrome PMID: 19247371
10. The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype. PMID: 12837689
11. MKKS/BBS6 is a novel centrosomal component required for cytokinesis PMID: 15731008
12. These results indicate that the MKKS mutants have an abnormal conformation and that chaperone-dependent degradation mediated by CHIP is a key feature of McKusick-Kaufman syndrome/Bardet-Biedl syndrome diseases. PMID: 18094050
13. results suggest that genetic variation in the MKKS gene may play a role in the development of obesity and the metabolic syndrome. PMID: 18813213
14. Unaffected individuals in 2 pedigrees had 2 but not all 3 mutations that affecteds had which suggests that Bardet-Biedle syndrome might not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype. PMID: 11567139

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HGNC: 7108

OMIM: 236700

KEGG: hsa:8195

STRING: 9606.ENSP00000246062

UniGene: Hs.472119