antibody

Anti-ABCA4 antibody

MBS176289

0.1 mg

280 USD

polyclonal

rabbit

nonconjugated

Antibody

Anti-ABCA4 antibody

[ABCA4]

[Retinal-specific ATP-binding cassette transporter; ATP-binding cassette, sub-family A(ABC1), member 4; ABC 10 antibody; ABC A4 antibody; ABC10 antibody; ABCA 4 antibody; abcA4 antibody; ABCA4_HUMAN antibody; ABCR antibody; ARMD 2 antibody; ARMD2 antibody; ATP binding cassette 10 antibody; ATP binding cassette sub family A member 4 antibody; ATP binding cassette sub family A member4 antibody; ATP binding cassette transporter antibody; ATP binding cassette transporter retinal specific antibody; ATP binding cassette, sub family A(ABC1), member 4 antibody; ATP binding cassette, sub family A(ABC1), member4 antibody; ATP binding cassette10 antibody; ATP binding transporter, retina specific antibody; ATP-binding cassette sub-family A member 4 antibody; CORD 3 antibody; CORD3 antibody; DKFZp781N1972 antibody; FFM antibody; FLJ17534 antibody; Photoreceptor rim protein antibody; Retina specific ABC transporter antibody; Retinal specific ATP binding cassette transporter antibody; Retinal-specific ATP-binding cassette transporter antibody; RIM ABC transporter antibody; RIM protein antibody; RmP antibody; RP 19 antibody; RP19 antibody; Stargardt disease protein antibody; STGD antibody; STGD1 antibody]

[Retinal-specific ATP-binding cassette transporter; Retinal-specific ATP-binding cassette transporter; retinal-specific ATP-binding cassette transporter; RIM protein; RIM ABC transporter; photoreceptor rim protein; stargardt disease protein; retina-specific ABC transporter; ATP binding cassette transporter; ATP-binding transporter, retina-specific; ATP-binding cassette sub-family A member 4; ATP-binding cassette transporter, retinal-specific; ATP-binding cassette, sub-family A (ABC1), member 4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Stargardt disease protein]

[ABCA4]

[ABCA4; ABCA4; FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1; ABCR; RIM protein; RmP]

ABCA4_HUMAN

Polyclonal

IgG

Rabbit

Human

2273

No cross reactivity with other proteins.

Immunogen affinity purified.

Lyophilized

At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time. Avoid repeated freezing and thawing.

Western Blot (WB)

Western Blot:. Concentration: 0.1-0.5ug/ml. Tested Species: Hu. Tested Species: In-house tested species with positive results. Predicted Species: Species predicted to be fit for the product based on sequence similarities. Other applications have not been tested. Optimal dilutions should be determined by end users.

Western Blot (WB)

Immunogen: A synthetic peptide corresponding to a sequence at the C-terminus of human ABCA4 (1893-1906aa TLLVQRHFFLSQWI).

Contents: Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.

Description: Rabbit IgG polyclonal antibody for Retinal-specific ATP-binding cassette transporter(ABCA4) detection. Tested with WB in Human. Background: ABCA4(ATP-Binding Cassette, Subfamily A, Member 4), also known as ABCR, is a protein which in humans is encoded by the ABCA4 gene. ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A(ABC1) found exclusively in multicellular eukaryotes. Using a whole genome radiation hybrid panel, Allikmets et al.(1997) mapped the ABCR gene to 1p21-p13. Allikmets et al.(1997) localized ABCR transcripts exclusively within photoreceptor cells, indicating that ABCR mediates the transport of an essential molecule(or ion) either into or out of photoreceptor cells. Molday et al.(2000) showed by immunofluorescence microscopy and Western blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. The results suggested that the loss in central vision experienced by patients with Stargardt macular dystrophy arises directly from ABCR-mediated foveal cone degeneration.

6707663

P78363.3

P78363

ABC Transporters Pathway (83035); ABC Transporters Pathway (436); ABC-family Proteins Mediated Transport Pathway (106573); Disease Pathway (530764); Diseases Associated With Visual Transduction Pathway (771581); Signal Transduction Pathway (477114); The Canonical Retinoid Cycle In Rods (twilight Vision) Pathway (771585); Transmembrane Transport Of Small Molecules Pathway (106572); Visual Phototransduction Pathway (771584)

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. [provided by RefSeq, Jul 2008]

ABCA4: In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1). 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. Defects in ABCA4 are the cause of fundus flavimaculatus (FFM). 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. Defects in ABCA4 may be a cause of age-related macular degeneration type 2 (ARMD2). 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. Defects in ABCA4 are the cause of cone-rod dystrophy type 3 (CORD3). 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 ABCA4 are the cause of retinitis pigmentosa type 19 (RP19). 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. Belongs to the ABC transporter superfamily. ABCA family. Protein type: Membrane protein, multi-pass; Transporter, ABC family; Membrane protein, integral; Transporter. Chromosomal Location of Human Ortholog: 1p22. Cellular Component: membrane; integral to plasma membrane. Molecular Function: phospholipid-translocating ATPase activity; transporter activity; ATPase activity, coupled to transmembrane movement of substances; ATP binding. Biological Process: phospholipid translocation; phototransduction, visible light; phospholipid transfer to membrane; visual perception; transport; photoreceptor cell maintenance; retinoid metabolic process; transmembrane transport. Disease: Macular Degeneration, Age-related, 2; Cone-rod Dystrophy 3; Retinitis Pigmentosa 19; Stargardt Disease 1

0.1 mg

280 USD