Rabbit TMEM67 Polyclonal Antibody | anti-TMEM67 antibody
TMEM67 antibody
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene 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). [provided by RefSeq, Nov 2008]
Uniprot Description
TMEM67: a protein localizes to the primary cilium and to the plasma membrane. 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). Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Defects in this protein are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. Interacts with DNAJB9, DNAJC10, MKS1 and mutated SFTPC. Interacts with SYNE2 during the early establishment of cell polarity.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 8q22.1
Cellular Component: centrosome; endoplasmic reticulum membrane; cytoplasmic vesicle membrane; integral to membrane
Molecular Function: protein binding; unfolded protein binding; filamin binding
Biological Process: ER-associated protein catabolic process; organelle organization and biogenesis; cilium biogenesis
Disease: Coach Syndrome; Meckel Syndrome, Type 3; Nephronophthisis 11; Bardet-biedl Syndrome 1; Joubert Syndrome 6
Research Articles on TMEM67
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Product Notes
The TMEM67 tmem67 (Catalog #AAA838958) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's TMEM67 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Immunofluorescence (IF). Researchers should empirically determine the suitability of the TMEM67 tmem67 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "TMEM67, Polyclonal Antibody" 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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