Aperçu des produits pour MKKS (MKKS) Kits ELISA

Full name:
McKusick-Kaufman Syndrome Kits ELISA (MKKS)
Chez www.anticorps-enligne.fr sont 2 McKusick-Kaufman Syndrome (MKKS) Kits ELISA de 1 de différents fournisseurs disponibles. De plus, nous expédions MKKS Anticorps (52) et MKKS Protéines (4) et beaucoup plus de produits pour cette protéine. Un total de 61 MKKS produits sont actuellement listés.
Synonymes:
1300013E18Rik, AI463362, AI957237, Bbs6, DKFZp459L0833, HMCS, KMS, MKKS, MKS, zgc:55608

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Plus Kits ELISA pour MKKS partenaires d'interaction

Zebrafish McKusick-Kaufman Syndrome (MKKS) interaction partners

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

  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 genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 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 proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA (Montrer RHOA Kits ELISA) 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 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) interaction partners

  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 (Montrer CEP290 Kits ELISA) & 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 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-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 proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1, Bbs2, Bbs4, and Bbs6 mutant mice.

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

MKKS profil antigène

Antigen Summary

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

Protein level used designations for 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 SPECIES
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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