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ABCA4 recombinant protein :: Retinal-specific ATP-binding cassette transporter (ABCA4), partial Recombinant Protein

Scan QR to view Datasheet Catalog #    MBS952504 ABCA4 recombinant protein
Unit / Price
1 mg (E-Coli)  /  $1,375 +1 FREE 8GB USB
1 mg (Yeast)  /  $1,835 +2 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   

Retinal-specific ATP-binding cassette transporter (ABCA4), partial, Recombinant Protein

 Also Known As   

Recombinant Human Retinal-specific ATP-binding cassette transporter (ABCA4), partial

 Product Synonym Names    Recombinant Retinal-specific ATP-binding cassette transporter (ABCA4), partial; Retinal-specific ATP-binding cassette transporter; ATP-binding cassette sub-family A member 4 RIM ABC transporter; RIM protein; RmP Stargardt disease protein
 Product Gene Name   

ABCA4 recombinant protein

[Similar Products]
 Product Synonym Gene Name    ABCA4; ABCR [Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Chromosome Location    Chromosome: 1; NC_000001.10 (94458393..94586705, complement). Location: 1p22
 OMIM    153800
 3D Structure    ModBase 3D Structure for P78363
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 Host    E Coli or Yeast or Baculovirus or Mammalian Cell
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 Purity/Purification    >=90% (lot specific)
 Form/Format    Liquid containing glycerol
 Tag Information    This protein contains an N-terminal tag and may also contain a C-terminal Myc-tag. N-terminal host tags may vary (His, His-SUMO, His-B2M, GST). Tag types are determined by various factors including tag-protein stability and, therefore, are subject to change; please inquire for tag information.
 Sterility    Sterile filter available upon request.
 Endotoxin    Low endotoxin available upon request.
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 Species    Homo sapiens (Human)
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 Preparation and Storage    Store at -20 degree C. For extended storage, store at -20 or -80 degree C.
 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of ABCA4 recombinant protein 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 Primary Accession #    P78363 [Other Products]
 UniProt Secondary Accession #    O15112; O60438; O60915; Q4LE31 [Other Products]
 UniProt Related Accession #    P78363 [Other Products]
 Molecular Weight    255,944 Da [Similar Products]
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 NCBI Official Full Name    retinal-specific ATP-binding cassette transporter
 NCBI Official Synonym Full Names    ATP-binding cassette, sub-family A (ABC1), 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; 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
 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    Retinal-specific ATP-binding cassette transporter
 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: Transporter; Membrane protein, multi-pass; Membrane protein, integral; Transporter, ABC family

Chromosomal Location of Human Ortholog: 1p22

Cellular Component: membrane; integral to plasma membrane

Molecular Function: phospholipid-translocating ATPase activity; ATPase activity, coupled to transmembrane movement of substances; transporter activity; 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
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 Research Articles on ABCA4    1. A reduction in ABCA4 activity in the photoreceptors results in the increased production and accumulation of A2E and related bisretinoids within RPE cells.
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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 recombinant proteinPathways associated with ABCA4 recombinant protein
 Reference Product  PubMed Publications
 CNGB1 recombinant protein  >1 publications with ABCA4 and CNGB1
 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
 Transmembrane Transport Of Small Molecules Pathway antibodies  Transmembrane Transport Of Small Molecules Pathway Diagram
Diseases associated with ABCA4 recombinant proteinOrgans/Tissues associated with ABCA4 recombinant protein
 Disease Name  Pubmed Publications
 Macular Degeneration Antibodies  >181 publications with ABCA4 and Macular Degeneration
 Retinitis Pigmentosa Antibodies  >69 publications with ABCA4 and Retinitis Pigmentosa
 CONE-ROD DYSTROPHY 3 Antibodies  >27 publications with ABCA4 and CONE-ROD DYSTROPHY 3
 Stargardt disease 1 Antibodies  >21 publications with ABCA4 and Stargardt disease 1
 Cleft Lip Antibodies  >5 publications with ABCA4 and Cleft Lip
 Neoplasms Antibodies  >4 publications with ABCA4 and Neoplasms
 Jaw Diseases Antibodies  >3 publications with ABCA4 and Jaw Diseases
 Muscular Diseases Antibodies  >2 publications with ABCA4 and Muscular Diseases
 Obesity Antibodies  >2 publications with ABCA4 and Obesity
 Hypertrophy Antibodies  >1 publications with ABCA4 and Hypertrophy
 Organ/Tissue Name  Pubmed Publications
 Eye Antibodies  >204 publications with ABCA4 and Eye
 Brain Antibodies  >14 publications with ABCA4 and Brain
 Lung Antibodies  >4 publications with ABCA4 and Lung
 Vascular Antibodies  >4 publications with ABCA4 and Vascular
 Kidney Antibodies  >3 publications with ABCA4 and Kidney
 Pancreas Antibodies  >3 publications with ABCA4 and Pancreas
 Ovary Antibodies  >2 publications with ABCA4 and Ovary
 Bone Antibodies  >2 publications with ABCA4 and Bone
 Muscle Antibodies  >2 publications with ABCA4 and Muscle
 Prostate Antibodies  >1 publications with ABCA4 and Prostate
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