BD-PN1209

ABCA4 Rabbit Polyclonal Antibody

常规抗体

ABCA4 ABCR

Retinal-specific ATP-binding cassette transporter (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM protein) (RmP) (Stargardt disease protein)

WB

Human,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

24

P78363

https://www.uniprot.org/uniprotkb/P78363/entry

O35600

http://www.uniprot.org/uniprot/O35600

Synthesized peptide derived from human protein . at AA range: 630-710

ABCA4 Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

250kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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

Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.

Membrane ; Multi-pass membrane protein . Endoplasmic reticulum . Cytoplasmic vesicle . Cell projection, cilium, photoreceptor outer segment . Localized to the rim and incisures of rod outer segments disks. .

ABC transporters;

disease:Defects in ABCA4 are the cause of cone-rod dystrophy type 3 (CORD3) [MIM:604116]. 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.,disease:Defects in ABCA4 are the cause of fundus flavimaculatus (FFM) [MIM:248200]. FFM is an autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course.,disease:Defects in ABCA4 are the cause of retinitis pigmentosa type 19 (RP19) [MIM:601718]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. Inheritance is autosomal recessive.,disease:Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1) [MIM:248200]. STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal recessive.,disease:Defects in ABCA4 may be a cause of age-related macular degeneration type 2 (ARMD2) [MIM:153800]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.,function:May play a role in photoresponse. Retinoids, and most likely retinal, are the natural substrates for transport by abcr in rod outer segments. May act in the visual cycle to flip PE-all-trans-retinal adducts from the lumenal to the cytosolic face of the disk membrane, move free all-trans-retinal from the lipid phase of the disk membrane to a juxtamembrane location, or possibly reorient all-trans-retinal in the bilayer.,online information:Retina International's Scientific Newsletter,polymorphism:The variant Ala-863 is present in the general population at a frequency of approximately 3% and 1% in Northern Europe and United States, respectively. It is a mild alteration probably leading to STGD phenotype only in combination with a more severe allele. The variant Glu-1961 is found with high frequency in healthy individuals of Somali ancestry.,similarity:Belongs to the ABC transporter family. ABCA subfamily.,similarity:Contains 2 ABC transporter domains.,tissue specificity:Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.