Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionP78363
    • SpeciesHuman
    • SequencePKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQLLL SHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD
    • Molecular weight37 kDa including tags
    • Amino acids2174 to 2273

Specifications

Our Abpromise guarantee covers the use of ab114660 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Western blot

    SDS-PAGE

    ELISA

  • FormLiquid
  • Additional NotesProtein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General info

  • Alternative names
    • ABC 10
    • ABC A4
    • ABC transporter, retinal-specific
    • ABC10
    • ABCA 4
    • abcA4
    • ABCA4_HUMAN
    • ABCR
    • ARMD 2
    • ARMD2
    • ATP binding cassette 10
    • ATP binding cassette sub family A member 4
    • ATP binding cassette sub family A member4
    • ATP binding cassette transporter
    • ATP binding cassette transporter retinal specific
    • ATP binding cassette, sub family A (ABC1), member 4
    • ATP binding cassette, sub family A (ABC1), member4
    • ATP binding cassette10
    • ATP binding transporter, retina specific
    • ATP-binding cassette sub-family A member 4
    • CORD 3
    • CORD3
    • DKFZp781N1972
    • FFM
    • FLJ17534
    • Photoreceptor rim protein
    • Retina specific ABC transporter
    • Retinal specific ATP binding cassette transporter
    • Retinal-specific ATP-binding cassette transporter
    • RIM ABC transporter
    • RIM protein
    • RmP
    • RP 19
    • RP19
    • Stargardt disease protein
    • STGD
    • STGD1
    see all
  • FunctionIn 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.
  • Tissue specificityRetinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
  • Involvement in diseaseDefects 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.
    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.
    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.
    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.
    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.
  • Sequence similaritiesBelongs to the ABC transporter superfamily. ABCA family.
    Contains 2 ABC transporter domains.
  • Cellular localizationMembrane. Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.
  • Target information above from: UniProt accession P78363 The UniProt Consortium
    The Universal Protein Resource (UniProt) in 2010
    Nucleic Acids Res. 38:D142-D148 (2010) .

    Information by UniProt

Human ABCA4 protein fragment images

  • SDS-PAGE analysis of ab114660 on a 12.5% gel stained with Coomassie Blue.

References for Human ABCA4 protein fragment (ab114660)

ab114660 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab114660.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"