Recombinant Human Meckelin (TMEM67), partial

Code CSB-YP689243HU
MSDS
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Source Yeast
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Code CSB-EP689243HU
MSDS
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Source E.coli
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Code CSB-EP689243HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP689243HU
MSDS
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Source Baculovirus
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Code CSB-MP689243HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
TMEM67
Uniprot No.
Alternative Names
TMEM67; MKS3; Meckelin; Meckel syndrome type 3 protein; Transmembrane protein 67
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

Customer Reviews and Q&A

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Target Background

Function
Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).
Gene References into Functions
  1. The authors results suggest that Asn242Ser in TMEM67 is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. PMID: 28719906
  2. Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder. PMID: 28161324
  3. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
  4. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. PMID: 23393159
  5. mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates PMID: 20232449
  6. Data show that knockdown of MKS3 inhibited degradation of mutant SP-C. PMID: 19815549
  7. mapping to chromosome 8 and possible role in Meckel-Gruber syndrome PMID: 12384791
  8. Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. PMID: 16415887
  9. identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6) PMID: 17160906
  10. Mutations in MKS3 is associated with Bardet-Biedl syndrome PMID: 18327255
  11. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). PMID: 19058225
  12. Missense mutations within the MKS3 gene are associated with nephronophthisis with liver fibrosis. PMID: 19508969

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Involvement in disease
Meckel syndrome 3 (MKS3); Joubert syndrome 6 (JBTS6); Bardet-Biedl syndrome (BBS); COACH syndrome (COACHS); Nephronophthisis 11 (NPHP11)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body.
Tissue Specificity
Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.
Database Links

HGNC: 28396

OMIM: 209900

KEGG: hsa:91147

STRING: 9606.ENSP00000389998

UniGene: Hs.116240

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