Mouse CACNA1F Monoclonal Antibody | anti-CACNA1F antibody
CACNA1F (Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit, AIED, COD3, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, JM8, JMC8, OA2) (MaxLight 490)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
Uniprot Description
CACNA1F: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Defects in CACNA1F are the cause of congenital stationary night blindness type 2A (CSNB2A). Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. Defects in CACNA1F are the cause of cone-rod dystrophy X- linked type 3 (CORDX3). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Defects in CACNA1F are the cause of Aaland island eye disease (AIED); also known as Forsius-Eriksson type ocular albinism. On the Aaland island in the Baltic Sea, AIED is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: Xp11.23
Cellular Component: integral to membrane; plasma membrane; voltage-gated calcium channel complex
Molecular Function: high voltage-gated calcium channel activity; metal ion binding; voltage-gated calcium channel activity
Biological Process: detection of light stimulus involved in visual perception; regulation of T cell receptor signaling pathway; T cell homeostasis; visual perception
Disease: Aland Island Eye Disease; Cone-rod Dystrophy, X-linked, 3; Night Blindness, Congenital Stationary, Type 2a
Research Articles on CACNA1F
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Product Notes
The CACNA1F cacna1f (Catalog #AAA6205425) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's CACNA1F can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Applications are based on unconjugated antibody. Researchers should empirically determine the suitability of the CACNA1F cacna1f 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 "CACNA1F, Monoclonal 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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