Rabbit ABCA4 Polyclonal Antibody | anti-ABCA4 antibody

ABCA4 Polyclonal Antibody

Cat. Num. AAA3007069

• Gene Names: ABCA4; FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1
• Reactivity: Human, Mouse, Rat
• Applications: Western Blot, Immunohistochemistry
• Purity: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is >95% (by SDS-PAGE).
• Synonyms: ABCA4; Polyclonal Antibody; ABCA4 Polyclonal Antibody; Retinal-specific ATP-binding cassette transporter; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Stargardt disease protein; ABCR; anti-ABCA4 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: ABCA4 polyclonal antibody detects endogenous levels of ABCA4 protein.
• Purity/Purification: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is >95% (by SDS-PAGE).
• Form/Format: Rabbit IgG, 1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2
• Sequence Length: 2273

• Applicable Applications for anti-ABCA4 antibody: Western Blot (WB), Immunohistochemistry (IHC)
• Application Notes: WB: 1:500-1:1000; IHC: 1:50-1:200
• Immunogen: A synthetic peptide corresponding to residues in Human ABCA4.
• Preparation and Storage: Store at 4 degree C short term.; Aliquot and store at -20 degree C long term.; Avoid freeze-thaw cycles.

Western Blot (WB)

(Western Blot (WB) analysis of ABCA4 polyclonal antibody at 1:500 dilutionLane1:HEK293T whole cell lysateLane2:sp2/0 whole cell lysate Lane3:PC12 whole cell lysate)

Immunohistochemistry (IHC)

(Immunohistochemistry (IHC) analyzes of ABCA4 pAb in paraffin-embedded human colon carcinoma tissue at 1:50,showing membrane staining. Negative control (the right) Using PBS instead of primary antibody, secondary antibody is Goat Anti-Rabbit IgG-biotin followed by avidin-peroxidase.)

Immunohistochemistry (IHC)

(Immunohistochemistry (IHC) analyzes of ABCA4 pAb in paraffin-embedded human kidney carcinoma tissue at 1:50,showing membrane staining. Negative control (the right) Using PBS instead of primary antibody, secondary antibody is Goat Anti-Rabbit IgG-biotin followed by avidin-peroxidase.)

Related Product Information for anti-ABCA4 antibody

The ATP-binding cassette (ABC) superfamily is comprised of transmembrane proteins involved in energy-dependent transport of a variety of substrates across membranes. ABCA4 (also designated ABCR, photoreceptor RIM or RMP) is a photoreceptor specific ATP-binding cassette (ABC) transporter. ABCA4 is exclusively expressed within photoreceptor cells, indicating that ABCA4 mediates the transport of an essential molecule either into or out of photoreceptor cells. Mutations in the gene encoding ABCA4 are responsible for autosomal recessive Stargardt disease (STGD), an early onset macular degeneration, and some forms of autosomal recessive cone-rod dystrophy and autosomal recessive retinitis pigmentosa. In addition, heterozygosity for ABCA4 mutations may possess a risk factor for age-related macular degeneration. ABCA4 is most closely related to the mouse and human ABC1 and ABC2 and maps to human chromosome 1p22.1.

NCBI and Uniprot Product Information

• NCBI GI #: 6707663
• NCBI GeneID: 24
• UniProt Accession #: P78363
• Molecular Weight: ~ 256kDa
• NCBI Official Full Name: Retinal-specific phospholipid-transporting ATPase ABCA4
• NCBI Official Synonym Full Names: ATP binding cassette subfamily A member 4
• NCBI Official Symbol: ABCA4
• NCBI Official Synonym Symbols: FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1
• NCBI Protein Information: retinal-specific phospholipid-transporting ATPase ABCA4
• UniProt Protein Name: Retinal-specific ATP-binding cassette transporter
• Protein Family: ABC transporter A family
• UniProt Gene Name: ABCA4
• UniProt Synonym Gene Names: ABCR; RIM protein; RmP
• UniProt Entry Name: ABCA4_HUMAN

NCBI Description

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, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), 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, Sep 2019]

Uniprot Description

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