anti-MKKS (MKKS) Antikörper

Bezeichnung:
anti-McKusick-Kaufman Syndrome Antikörper (MKKS)
Auf www.antikoerper-online.de finden Sie aktuell 52 McKusick-Kaufman Syndrome (MKKS) Antikörper von 12 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen MKKS Proteine (4) und MKKS Kits (2) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 61 MKKS Produkte verfügbar.
Synonyme:
1300013E18Rik, AI463362, AI957237, Bbs6, DKFZp459L0833, HMCS, KMS, MKKS, MKS, zgc:55608

Meistgesuchte Reaktivitäten zu anti-MKKS (MKKS) Antikörper

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anti-Rat (Rattus) MKKS Antikörper:

anti-Human MKKS Antikörper:

anti-Mouse (Murine) MKKS Antikörper:

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Am meisten referenzierte anti-MKKS Antikörper

  1. Human Polyclonal MKKS Primary Antibody für EIA, WB - ABIN953456 : Billingsley, Bin, Fieggen, Duncan, Gerth, Ogata, Wodak, Traboulsi, Fishman, Paterson, Chitayat, Knueppel, Millán, Mitchell, Deveault, Héon: Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. in Journal of medical genetics 2010 (PubMed)
    Zeige alle 3 Referenzen für 953456

  2. Human Polyclonal MKKS Primary Antibody für 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 (PubMed)

Weitere Antikörper gegen MKKS Interaktionspartner

Zebrafish McKusick-Kaufman Syndrome (MKKS) Interaktionspartner

  1. We demonstrate that through this interaction, BBS6 modulates the sub-cellular localization of SMARCC1 (zeige SMARCC1 Antikörper) and find, by transcriptional profiling, similar transcriptional changes following smarcc1a (zeige SMARCC1 Antikörper) 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.

Human McKusick-Kaufman Syndrome (MKKS) Interaktionspartner

  1. We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly.

  2. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS (zeige BBS2 Antikörper) genes (BBS3, BBS9 (zeige BBS9 Antikörper), BBS10 (zeige BBS10 Antikörper) and BBS2 (zeige BBS2 Antikörper)) compared to worldwide (BBS1 (zeige BBS1 Antikörper) and 10) reports.

  3. Novel mutation (c.1272+1G>A) in BBS6 found in Tunisian families with Bardet-Biedl syndrome.

  4. Findings indicate that Bbs (zeige BBS2 Antikörper) proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA (zeige RHOA Antikörper) levels.

  5. 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.

  6. 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.

  7. genetic variations at MKKS gene influence the risk of metabolic syndrome

  8. The presence of three mutant alleles in the BBS (zeige BBS2 Antikörper) family correlates with a more severe Bardet-Biedl phenotype.

  9. MKKS/BBS6 is a novel centrosomal component required for cytokinesis

  10. 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.

Mouse (Murine) McKusick-Kaufman Syndrome (MKKS) Interaktionspartner

  1. 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.

  2. Combinations of Cep290rd16 & Mkksko alleles improved ciliogenesis & sensory functions vs either mutant alone. Altered association of CEP290 (zeige CEP290 Antikörper) & MKKS affects multiprotein complex integrity at the cilia transition zone & basal body.

  3. Data implicate Bardet-Biedl syndrome genes in the regulation of vascular function and demonstrate that disrupting Bbs2 (zeige BBS2 Antikörper) and Bbs6 genes affect differentially the vascular function.

  4. MKKS/BBS6 is a novel centrosomal component required for cytokinesis

  5. Mutations in Mkks are the basis of the BBS (zeige BBS2 Antikörper)-like syndrome in knockout mice.

  6. 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.

  7. Although BBS (zeige BBS2 Antikörper) proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1 (zeige BBS1 Antikörper), Bbs2 (zeige BBS2 Antikörper), Bbs4 (zeige BBS4 Antikörper), and Bbs6 mutant mice.

  8. Bardet-Biedl syndrome (BBS (zeige BBS2 Antikörper)) proteins mediate LepR (zeige LEPR Antikörper) trafficking and that impaired LepR (zeige LEPR Antikörper) signaling underlies energy imbalance in BBS (zeige BBS2 Antikörper).

MKKS Antigen-Profil

Beschreibung des Gens

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.

Alternative names and synonyms associated with MKKS

  • McKusick-Kaufman syndrome (Mkks) Antikörper
  • McKusick-Kaufman syndrome (mkks) Antikörper
  • McKusick-Kaufman syndrome (MKKS) Antikörper
  • 1300013E18Rik Antikörper
  • AI463362 Antikörper
  • AI957237 Antikörper
  • Bbs6 Antikörper
  • DKFZp459L0833 Antikörper
  • HMCS Antikörper
  • KMS Antikörper
  • MKKS Antikörper
  • MKS Antikörper
  • zgc:55608 Antikörper

Bezeichner auf Proteinebene für MKKS

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

GENE ID SPEZIES
311456 Rattus norvegicus
393134 Danio rerio
416737 Gallus gallus
458098 Pan troglodytes
485771 Canis lupus familiaris
614288 Bos taurus
718547 Macaca mulatta
100031632 Monodelphis domestica
100064409 Equus caballus
100125210 Xenopus (Silurana) tropicalis
100172008 Pongo abelii
100339806 Oryctolagus cuniculus
100393149 Callithrix jacchus
100473266 Ailuropoda melanoleuca
100545671 Meleagris gallopavo
100560025 Anolis carolinensis
8195 Homo sapiens
59030 Mus musculus
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