Human beaded filament structural protein 2, phakinin ELISA Kit | BFSP2 elisa kit
Human Phakinin, BFSP2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
Uniprot Description
BFSP2: Involved in stabilization of lens fiber cell cytoskeleton. Defects in BFSP2 are the cause of cataract autosomal dominant multiple types 1 (ADC-MT1). Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. Belongs to the intermediate filament family.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 3q22.1
Cellular Component: cytoplasm; plasma membrane; intermediate filament
Molecular Function: structural constituent of cytoskeleton; structural constituent of eye lens
Biological Process: visual perception; cell maturation; response to stimulus; intermediate filament cytoskeleton organization and biogenesis
Disease: Cataract 12, Multiple Types
Research Articles on BFSP2
Similar Products
Product Notes
The Human BFSP2 bfsp2 (Catalog #AAA9332066) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9332066 ELISA Kit recognizes Human BFSP2. It is sometimes possible for the material contained within the vial of "beaded filament structural protein 2, phakinin, 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.
