Mouse Meckelin (TMEM67) ELISA Kit | TMEM67 elisa kit
Mouse Meckelin (TMEM67) ELISA Kit
* Allow all reagents to warm to room temperature for at least 30 minutes before opening.
* Pre-rinse the pipet tip with reagent, use fresh pipet tips for each sample, standard and reagent to avoid contamination.
* Unused wells must be kept desiccated at 4 degree C in the sealed bag provided.
* Mix Thoroughly is very important for the result. It is recommended using low frequency oscillator or slight hand shaking every 10 minutes.
* It is recommended that all samples and standards be assayed in duplicate or triplicate.
Background: TMEM67 localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). The human TMEM67 gene encodes a 995-amino acid protein, which they authors called meckelin, with a calculated unglycosylated weight of 108 kD. Human and rat meckelin share 84% identity. Meckelin was predicted to contain a signal peptide, at least 2 cysteine-rich repeats, and a 490-residue extracellular region with 4 N-linked glycosylated sites, followed by 7 transmembrane domains and a 30-residue cytoplasmic tail.
NCBI and Uniprot Product Information
Uniprot Description
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. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (sftpc). Ref.2 Ref.4 Ref.5
Subunit structure: Interacts with DNAJB9, DNAJC10 and mutated SFTPC
By similarity. Interacts with SYNE2 during the early establishment of cell polarity
By similarity. Part of the tectonic-like complex (also named B9 complex). Interacts (via C-terminus) with FLNA
By similarity. Ref.5
Subcellular location: Cell membrane; Multi-pass membrane protein
Potential. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm › cytoskeleton › cilium basal body. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme. Ref.3 Ref.5
Disruption phenotype: Mice survive to birth with no overt morphological abnormalitites. However, these mice died soon after birth. Ref.5
Sequence caution: The sequence BAC31378.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence BAC32362.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
Research Articles on TMEM67
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Product Notes
The Mouse TMEM67 tmem67 (Catalog #AAA9716773) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9716773 ELISA Kit recognizes Mouse TMEM67. It is sometimes possible for the material contained within the vial of "Meckelin (TMEM67), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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