Use your antibodies-online credentials, if available.
抗Rat (Rattus) MKKS 抗体:
抗Human MKKS 抗体:
抗Mouse (Murine) MKKS 抗体:
Human Polyclonal MKKS Primary Antibody for IP, WB - ABIN948666
Rachel, May-Simera, Veleri, Gotoh, Choi, Murga-Zamalloa, McIntyre, Marek, Lopez, Hackett, Zhang, Brooks, den Hollander, Beales, Li, Jacobson, Sood, Martens, Liu, Friedman, Khanna, Koenekoop, Kelley et al.: Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. ... in The Journal of clinical investigation 2012
We demonstrate that through this interaction, BBS6 modulates the sub-cellular localization of SMARCC1 (显示 SMARCC1 抗体) and find, by transcriptional profiling, similar transcriptional changes following smarcc1a (显示 SMARCC1 抗体) and bbs6 manipulation. Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.
We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly.
we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS (显示 BBS2 抗体) genes (BBS3, BBS9 (显示 BBS9 抗体), BBS10 (显示 BBS10 抗体) and BBS2 (显示 BBS2 抗体)) compared to worldwide (BBS1 (显示 BBS1 抗体) and 10) reports.
Novel mutation (c.1272+1G>A) in BBS6 found in Tunisian families with Bardet-Biedl syndrome.
Findings indicate that Bbs (显示 BBS2 抗体) proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA (显示 RHOA 抗体) levels.
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.
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.
genetic variations at MKKS gene influence the risk of metabolic syndrome
The presence of three mutant alleles in the BBS (显示 BBS2 抗体) family correlates with a more severe Bardet-Biedl phenotype.
MKKS/BBS6 is a novel centrosomal component required for cytokinesis
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.
Combinations of Cep290rd16 & Mkksko alleles improved ciliogenesis & sensory functions vs either mutant alone. Altered association of CEP290 (显示 CEP290 抗体) & MKKS affects multiprotein complex integrity at the cilia transition zone & basal body.
Data implicate Bardet-Biedl syndrome genes in the regulation of vascular function and demonstrate that disrupting Bbs2 (显示 BBS2 抗体) and Bbs6 genes affect differentially the vascular function.
Mutations in Mkks are the basis of the BBS (显示 BBS2 抗体)-like syndrome in knockout mice.
Although BBS (显示 BBS2 抗体) proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1 (显示 BBS1 抗体), Bbs2 (显示 BBS2 抗体), Bbs4 (显示 BBS4 抗体), and Bbs6 mutant mice.
Bardet-Biedl syndrome (BBS (显示 BBS2 抗体)) proteins mediate LepR (显示 LEPR 抗体) trafficking and that impaired LepR (显示 LEPR 抗体) signaling underlies energy imbalance in BBS (显示 BBS2 抗体).
This gene encodes a protein which shares sequence similarity with other members of the chaperonin family. The encoded protein may have a role in protein folding, processing and assembly. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants.
McKusick-Kaufman syndrome protein
, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
, Bardet-Biedl syndrome 6
, McKusick-Kaufman syndrome
, mcKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin-like
, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin-like
, bardet-Biedl syndrome 6 protein
, McKusick-Kaufman syndrome protein; MKKS protein
, protein Bbs6 homolog