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ABCA4 peptide

Scan QR to view Datasheet Catalog #    MBS425337 ABCA4 peptide
Unit / Price
0.1 mg  /  $190 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

ABCA4, Peptide

★Popular Item★
 Also Known As   

ABCA4 Immunizing Peptide

 Product Synonym Names    ABCA4; ATP-binding cassette, sub-family A (ABC1), member 4; ABC10; ABCR; ARMD2; CORD3; DKFZp781N1972; FFM; FLJ17534; RMP; RP19; STGD; STGD1; ATP binding cassette transporter; ATP-binding cassette, sub-family A member 4; ATP-binding transporter, retina-spe
 Product Gene Name   

ABCA4 peptide

[Similar Products]
 Antibody/Peptide Pairs    ABCA4 peptide (MBS425337) is used for blocking the activity of ABCA4 antibody (MBS421926)
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Sequence    EPECPGPQLN TGTQ
 OMIM    153800
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 Species Reactivity    Human
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 Form/Format    100ug of dried peptide
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 Preparation and Storage    Shipped at ambient temperature, store at -20 degree C
 ISO Certification    Manufactured in an ISO 9001:2015 Certified Laboratory.
 Other Notes    Small volumes of ABCA4 peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for ABCA4. It may not necessarily be applicable to this product.
 NCBI GI #    105990541
 NCBI GeneID    24
 NCBI Accession #    NP_000341.2 [Other Products]
 NCBI GenBank Nucleotide #    NM_000350.2 [Other Products]
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 UniProt Secondary Accession #    O15112; O60438; O60915; Q0QD48; Q4LE31 [Other Products]
 UniProt Related Accession #    P78363 [Other Products]
 Molecular Weight    255,944 Da
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 NCBI Official Full Name    retinal-specific ATP-binding cassette transporter
 NCBI Official Synonym Full Names    ATP binding cassette subfamily A member 4
 NCBI Official Symbol    ABCA4 [Similar Products]
 NCBI Official Synonym Symbols   
FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1
[Similar Products]
 NCBI Protein Information    retinal-specific ATP-binding cassette transporter
 UniProt Protein Name    Retinal-specific ATP-binding cassette transporter
 UniProt Synonym Protein Names   
ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Stargardt disease protein
 Protein Family    ABC transporter A family
 UniProt Gene Name    ABCA4 [Similar Products]
 UniProt Synonym Gene Names    ABCR; RIM protein; RmP [Similar Products]
 UniProt Entry Name    ABCA4_HUMAN
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 NCBI Summary for ABCA4    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]
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 UniProt Comments for ABCA4    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, integral; Transporter, ABC family; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 1p22

Cellular Component: integral to plasma membrane; intracellular membrane-bound organelle; membrane

Molecular Function: ATP binding; ATPase activity, coupled to transmembrane movement of substances; eye pigment precursor transporter activity; phospholipid-translocating ATPase activity; transporter activity

Biological Process: lipid transport; phospholipid transfer to membrane; phospholipid translocation; photoreceptor cell maintenance; phototransduction, visible light; retinoid metabolic process; transmembrane transport; transport; visual perception

Disease: Cone-rod Dystrophy 3; Macular Degeneration, Age-related, 2; Retinitis Pigmentosa 19; Stargardt Disease 1
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 Research Articles on ABCA4    1. This family epitomizes the clinical and genetic complexity of ABCA4-associated diseases. It contained variants from all classes of mutations
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with ABCA4 peptidePathways associated with ABCA4 peptide
 Reference Product  PubMed Publications
 RDH8 peptide  >28 publications with ABCA4 and RDH8
 RPE65 peptide  >15 publications with ABCA4 and RPE65
 ELOVL4 peptide  >12 publications with ABCA4 and ELOVL4
 RDH12 peptide  >11 publications with ABCA4 and RDH12
 CNGB1 peptide  >4 publications with ABCA4 and CNGB1
 ROM1 peptide  >4 publications with ABCA4 and ROM1
 Products by Pathway  Pathway Diagram
 ABC Transporters Pathway antibodies  ABC Transporters Pathway Diagram
 ABC Transporters Pathway antibodies  ABC Transporters Pathway Diagram
 ABC-family Proteins Mediated Transport Pathway antibodies  ABC-family Proteins Mediated Transport Pathway Diagram
 Signal Transduction Pathway antibodies  Signal Transduction Pathway Diagram
 The Canonical Retinoid Cycle In Rods (twilight Vision) Pathway antibodies  The Canonical Retinoid Cycle In Rods (twilight Vision) Pathway Diagram
 Transmembrane Transport Of Small Molecules Pathway antibodies  Transmembrane Transport Of Small Molecules Pathway Diagram
 Visual Phototransduction Pathway antibodies  Visual Phototransduction Pathway Diagram
Diseases associated with ABCA4 peptideOrgans/Tissues associated with ABCA4 peptide
 Disease Name  Pubmed Publications
 Macular Degeneration Antibodies  >302 publications with ABCA4 and Macular Degeneration
 Retinitis Pigmentosa Antibodies  >103 publications with ABCA4 and Retinitis Pigmentosa
 Stargardt disease 1 Antibodies  >93 publications with ABCA4 and Stargardt disease 1
 Disease Models, Animal Antibodies  >36 publications with ABCA4 and Disease Models, Animal
 Cone-Rod Dystrophy 3 Antibodies  >36 publications with ABCA4 and Cone-Rod Dystrophy 3
 Cleft Lip Antibodies  >14 publications with ABCA4 and Cleft Lip
 Inflammation Antibodies  >9 publications with ABCA4 and Inflammation
 Kidney Diseases Antibodies  >3 publications with ABCA4 and Kidney Diseases
 Liver Diseases Antibodies  >3 publications with ABCA4 and Liver Diseases
 Necrosis Antibodies  >2 publications with ABCA4 and Necrosis
 Organ/Tissue Name  Pubmed Publications
 Eye Antibodies  >350 publications with ABCA4 and Eye
 Brain Antibodies  >22 publications with ABCA4 and Brain
 Vascular Antibodies  >10 publications with ABCA4 and Vascular
 Kidney Antibodies  >6 publications with ABCA4 and Kidney
 Bone Antibodies  >5 publications with ABCA4 and Bone
 Lung Antibodies  >4 publications with ABCA4 and Lung
 Muscle Antibodies  >4 publications with ABCA4 and Muscle
 Pancreas Antibodies  >3 publications with ABCA4 and Pancreas
 Ovary Antibodies  >2 publications with ABCA4 and Ovary
 Embryonic Tissue Antibodies  >2 publications with ABCA4 and Embryonic Tissue
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