Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionO43186
    • SpeciesHuman
    • SequenceMMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQ LEELEALFAKTQYPDVYAREEVALKINLPESRVQVWFKNRRAKCRQQRQQ QKQQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISDSYSPPLPGPS GSPTTAVATVSIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASA FCSSPSAYGSPSSYFSGLDPYLSPMVPQLGGPALSPLSGPSVGPSLAQSP TSLSGQSYGAYSPVDSLEFKDPTGTWKFTYNPMDPLDYKDQSAWKFQIL
    • Molecular weight59 kDa including tags
    • Amino acids1 to 299

Specifications

Our Abpromise guarantee covers the use of ab117005 in the following tested applications.

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

  • Applications

    SDS-PAGE

    ELISA

    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    This protein is 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: 0.79% Tris HCl, 0.3% Glutathione

General Info

  • Alternative names
    • Cone rod homeobox
    • Cone rod homeobox protein
    • Cone rod homeobox-containing gene
    • cone-rod homeobox
    • Cone-rod homeobox protein
    • CORD 2
    • CRD
    • CRX
    • CRX_HUMAN
    • LCA 7
    • LCA7
    • Orthodenticle homeobox 3
    • OTX 3
    • OTX3
    see all
  • FunctionBinds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, e.g. NRL and RX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors.
  • Tissue specificityRetina.
  • Involvement in diseaseDefects in CRX are the cause of Leber congenital amaurosis type 7 (LCA7) [MIM:613829]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
    Defects in CRX are the cause of cone-rod dystrophy type 2 (CORD2) [MIM:120970]; also known as cone-rod retinal dystrophy 2 (CRD2). 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 CRX are a cause of retinitis pigmentosa (RP) [MIM:268000]. 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.
  • Sequence similaritiesBelongs to the paired homeobox family.
    Contains 1 homeobox DNA-binding domain.
  • Cellular localizationNucleus.
  • Information by UniProt

Recombinant Human CORD2 protein images

  • 12.5% SDS-PAGE showing ab117005 at approx. 59.00kDa.
    Stained with Coomassie Blue.

References for Recombinant Human CORD2 protein (ab117005)

ab117005 has not yet been referenced specifically in any publications.

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