Recombinant Human IFT122 protein (ab163211)

Overview

  • Product name

    Recombinant Human IFT122 protein
  • Protein length

    Protein fragment

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Species

      Human
    • Sequence

      SIGDEDPFTAKLSFEQGGSEFVPVVVSRLVLRSMSRRDVLIKRWPPPLRW QYFRSLLPDASITMCPSCFQMFHSEDYELLVLQHGCCPYCRRCKDDPG
    • Amino acids

      1194 to 1291
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab163211 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.
  • 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: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • CED
    • IF122_HUMAN
    • IFT122
    • Intraflagellar transport 122 homolog (Chlamydomonas)
    • Intraflagellar transport protein 122 homolog
    • SPG
    • WD repeat domain 10
    • WD repeat-containing protein 10
    • WD repeat-containing protein 140
    • WDR10
    • WDR10p
    • WDR140
    see all
  • Function

    Required for cilia formation and Shh signaling during neuronal patterning.
  • Tissue specificity

    Expressed in many tissues. Predominant expression in testis and pituitary.
  • Involvement in disease

    Defects in IFT122 are a cause of cranioectodermal dysplasia type 1 (CED1) [MIM:218330]. CED1 is a disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails.
  • Sequence similarities

    Contains 7 WD repeats.
  • Cellular localization

    Cytoplasm. Cell projection > cilium. Cytoplasm > cytoskeleton > cilium basal body. Localizes to photoreceptor connecting cilia.
  • Information by UniProt

Images

  • ab163211 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab163211 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab163211.
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