MKKS Proteine (MKKS)

Bezeichnung:
McKusick-Kaufman Syndrome Proteine (MKKS)
Auf www.antikoerper-online.de finden Sie aktuell 4 McKusick-Kaufman Syndrome (MKKS) Proteine von 2 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen MKKS Antikörper (52) 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
alle Proteine anzeigen Gen GeneID UniProt
Ratte MKKS MKKS 311456  
MKKS 8195 Q9NPJ1
MKKS 59030 Q9JI70

Weitere Synonyme anzeigen

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Weitere Proteine zu MKKS Interaktionspartnern

Zebrafish McKusick-Kaufman Syndrome (MKKS) Interaktionspartner

  1. We demonstrate that through this interaction, BBS6 modulates the sub-cellular localization of SMARCC1 (zeige SMARCC1 Proteine) and find, by transcriptional profiling, similar transcriptional changes following smarcc1a (zeige SMARCC1 Proteine) 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 Proteine) genes (BBS3, BBS9 (zeige BBS9 Proteine), BBS10 (zeige BBS10 Proteine) and BBS2 (zeige BBS2 Proteine)) compared to worldwide (BBS1 (zeige BBS1 Proteine) 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 Proteine) proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA (zeige RHOA Proteine) 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 Proteine) 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 & 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 Proteine) 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 Proteine)-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 Proteine) proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1 (zeige BBS1 Proteine), Bbs2 (zeige BBS2 Proteine), Bbs4 (zeige BBS4 Proteine), and Bbs6 mutant mice.

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

MKKS Protein Überblick

Protein Überblick

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

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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