Product Datasheet
ABCA4 Antibody
Catalog Number: 37305
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#: P78363
NCBI Gene ID: 24
Gene Accssion: NP_000341
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Synthetic peptide corresponding to a region derived from internal residues of human ATP-binding cassette, sub-family A (ABC1), member 4
- appl_detail:
- Immunohistochemistry: 1:25-1:100
- other_names:
- FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1
- Purification:
- Antigen affinity purification.
- Specificity:
- The antibody detects endogenous levels of total ABCA4 protein.
- Background:
- The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2.
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