Catalog No.
YHK40001
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Gly309-Ser502
Predicted molecular weight
24.28 kDa
Nature
Recombinant
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q9NXB0
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
MKS1, Meckel syndrome type 1 protein
Note
For research use only.
New Insights into Cystic Kidney Diseases., PMID:29734148
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center., PMID:30055837
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone., PMID:30133325
Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation., PMID:30705305
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene., PMID:30851085
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway., PMID:31139930
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome., PMID:31663672
Genetic mapping of green curd gene Gr in cauliflower., PMID:31676958
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome., PMID:31840411
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review., PMID:32003477
Two novel TCTN2 mutations cause Meckel-Gruber syndrome., PMID:32655147
Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins., PMID:32726168
Genome-Wide Identification and Analysis of the Valine-Glutamine Motif-Containing Gene Family in Brassica napus and Functional Characterization of BnMKS1 in Response to Leptosphaeria maculans., PMID:32804045
Ciliopathies and the Kidney: A Review., PMID:33039432
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome., PMID:33193692
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders., PMID:33383187
CEP55 promotes cilia disassembly through stabilizing Aurora A kinase., PMID:33475699
A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin., PMID:33590725
Mitochondrial Retrograde Signaling Contributes to Metabolic Differentiation in Yeast Colonies., PMID:34070491
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature., PMID:34096792
Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations., PMID:34356094
Target of Rapamycin Complex 1 (TORC1), Protein Kinase A (PKA) and Cytosolic pH Regulate a Transcriptional Circuit for Lipid Droplet Formation., PMID:34445723
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family., PMID:34532855
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance., PMID:34821546
Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses., PMID:34981460
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies., PMID:35137054
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1., PMID:35170427
Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family., PMID:35233738
Involvement of the mitochondrial retrograde pathway in dihydrosphingosine-induced cytotoxicity in budding yeast., PMID:35316765
Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing., PMID:35352487
Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1., PMID:35360848
Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis., PMID:35621037
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies., PMID:35655331
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants., PMID:36533556
Alleviating glucose repression and enhancing respiratory capacity to increase itaconic acid production., PMID:36632527
Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome., PMID:36970932
RetroGREAT signaling: The lessons we learn from yeast., PMID:37565710
[Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene]., PMID:37730223
Rapamycin-sensitive mechanisms confine the growth of fission yeast below the temperatures detrimental to cell physiology., PMID:38269097
[Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene]., PMID:38311563
Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218., PMID:38751342
Up-regulation of Retrograde Response in yeast increases glycerol and reduces ethanol during wine fermentation., PMID:38768686
Activation of the yeast Retrograde Response pathway by adaptive laboratory evolution with S-(2-aminoethyl)-L-cysteine reduces ethanol and increases glycerol during winemaking., PMID:39164751
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation., PMID:39304719
New functions of B9D2 in tight junctions and epithelial polarity., PMID:39455645
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease., PMID:39731278
Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis., PMID:40436881
Perturbations in L-serine metabolism regulates protein quality control through sensor of retrograde response pathway Rtg2 in S.cerevisae., PMID:40456447
For research use only. Not for human or drug use.
