Human Transmembrane protein 126A ELISA Kit | TMEM126A elisa kit
Human Transmembrane protein 126A ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Uniprot Description
TMEM126A: Defects in TMEM126A are the cause of optic atrophy type 7 (OPA7). A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Belongs to the TMEM126 family.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 11q14.1
Cellular Component: integral to membrane; mitochondrial inner membrane; mitochondrion
Biological Process: optic nerve development
Disease: Optic Atrophy 7 With Or Without Auditory Neuropathy
Research Articles on TMEM126A
Similar Products
Product Notes
The Human TMEM126A tmem126a (Catalog #AAA2881019) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA2881019 ELISA Kit recognizes Human TMEM126A. It is sometimes possible for the material contained within the vial of "Transmembrane protein 126A, 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
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
If you are ready to order, navigate to Shopping Cart and get ready to checkout.