TMEM67 Recombinant Monoclonal Antibody

Datasheet

Code	CSB-RA780441A0HU
Size	US$210
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Image	Western Blot Positive WB detected in: K562 whole cell lysate(30µg), A431 whole cell lysate(30µg), Hela whole cell lysate(30µg), U-251MG whole cell lysate(30µg), HEK293 whole cell lysate(30µg), MCF-7 whole cell lysate(30µg), Rat brain tissue lysate(30µg) All lanes: Meckelin polymerase beta antibody at 1:1000 Secondary Goat polyclonal to rabbit IgG at 1/40000 dilution Predicted band size: 112 kDa Observed band size: 112, 122 kDa Exposure time：1min Immunofluorescence staining of U-251MG cell with CSB-RA780441A0HU at 1:50, counter-stained with DAPI. The cells were fixed in 4% formaldehyde and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L). Overlay Peak curve showing 786-O cells stained with CSB-RA780441A0HU (red line) at 1:100. The cells were fixed in 4% formaldehyde and permeated by 0.2% TritonX-100 for 10min. Then 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (1ug/110⁶cells) for 45min at 4℃. The secondary antibody used was FITC-conjugated goat anti-rabbit IgG (H+L) at 1/200 dilution for 35min at 4℃.Control antibody (green line) was Rabbit IgG (1ug/110⁶cells) used under the same conditions. Acquisition of >10,000 events was performed.
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Product Details
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Target Background

Product Details

Uniprot No.

Q5HYA8

Target Names

TMEM67

Alternative Names

Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67), TMEM67, MKS3

Species Reactivity

Human, Rat

Immunogen

A synthesized peptide from human TMEM67 protein

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Clonality

Monoclonal

Isotype

Rabbit IgG

Clone No.

4H3

Purification Method

Affinity-chromatography

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4

Form

Liquid

Tested Applications

ELISA, WB, IF, FC

Recommended Dilution

Application	Recommended Dilution
WB	1:500-1:2000
IF	1:50-1:200
FC	1:50-1:200

Protocols

ELISA Protocol
Western Blotting(WB) Protocol
Immunofluorescence (IF) Protocol
Flow Cytometry (FC) Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Usage

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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

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
Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder. PMID: 28161324
Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. PMID: 23393159
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
Data show that knockdown of MKS3 inhibited degradation of mutant SP-C. PMID: 19815549
mapping to chromosome 8 and possible role in Meckel-Gruber syndrome PMID: 12384791
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
identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6) PMID: 17160906
Mutations in MKS3 is associated with Bardet-Biedl syndrome PMID: 18327255
Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). PMID: 19058225
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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Antibody FAQs What Is an Antibody? How to Choose an Antibody for Scientific Research? The difference between primary antibody and secondary antibod The Meaning of Irregular Antibody Screening Tag Antibodies, Your Good Partner in Protein Research How to Choose the Loading Control Antibodies?

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301-363-4651 (Available 9 a.m. to 5 p.m. CST from Monday to Friday)

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Address

7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA

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