You are viewing an incomplete version of our website. Please click to reload the website as full version.

McKusick-Kaufman Syndrome Proteins (MKKS)

MKKS encodes a protein which shares sequence similarity with other members of the chaperonin family. Additionally we are shipping MKKS Antibodies (48) and MKKS Kits (2) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
Rat MKKS MKKS 311456  
MKKS 8195 Q9NPJ1
MKKS 59030 Q9JI70
How to order from antibodies-online
  • +1 877 302 8632
  • +1 888 205 9894 (toll-free)
  • Order online
  • orders@antibodies-online.com

Top MKKS Proteins at antibodies-online.com

Showing 3 out of 4 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Wheat germ Human GST tag 2 μg Log in to see 9 Days
$333.33
Details

MKKS Proteins by Origin and Source

Origin Expressed in Conjugate
Human ,
,
Mouse (Murine)

More Proteins for McKusick-Kaufman Syndrome (MKKS) Interaction Partners

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 (show BBS2 Proteins) genes (BBS3, BBS9 (show BBS9 Proteins), BBS10 (show BBS10 Proteins) and BBS2 (show BBS2 Proteins)) compared to worldwide (BBS1 (show BBS1 Proteins) 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 (show BBS2 Proteins) proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA (show RHOA Proteins) 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 (show BBS2 Proteins) 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 & 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 (show BBS2 Proteins) 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 (show BBS2 Proteins)-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 (show BBS2 Proteins) proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1 (show BBS1 Proteins), Bbs2 (show BBS2 Proteins), Bbs4 (show BBS4 Proteins), and Bbs6 mutant mice.

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

MKKS Protein Profile

Protein 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.

Gene names and symbols 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

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
Selected quality suppliers for MKKS Proteins (MKKS)
Did you look for something else?