Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGL KAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEG ANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYM DQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLL
    • Molecular weight

      47 kDa including tags
    • Amino acids

      68 to 249
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab131796 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

  • Form

    Liquid
  • Additional notes

    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: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • A230106A15Rik
    • BCNS
    • FLJ26746
    • FLJ42602
    • Holoprosencephaly 7
    • HPE7
    • mes
    • NBCCS
    • OTTHUMP00000021709
    • OTTHUMP00000021710
    • Patched
    • Patched (Drosophila) homolog
    • Patched 1
    • Patched homolog (Drosophila)
    • Patched homolog 1
    • Patched homolog 1 (Drosophila)
    • Patched protein homolog 1
    • Protein patched homolog 1
    • PTC
    • PTC1
    • PTC1_HUMAN
    • PTCH
    • PTCH protein
    • PTCH protein +12b
    • PTCH protein +4'
    • PTCH protein -10
    • ptch1
    • PTCH1 protein
    • PTCH11
    • Ptch2
    see all
  • Function

    Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.
  • Tissue specificity

    In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
  • Involvement in disease

    Defects in PTCH1 are probably the cause of basal cell nevus syndrome (BCNS) [MIM:109400]; also known as Gorlin syndrome or Gorlin-Goltz syndrome. BCNS is an autosomal dominant disease characterized by nevoid basal cell carcinomas (NBCCS) and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas (BCC), fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. PTCH1 is also mutated in squamous cell carcinoma (SCC). Could also be associated with large body size observed in BCNS patients.
    Defects in PTCH1 are a cause of sporadic basal cell carcinoma (BCC) [MIM:605462].
    Defects in PTCH1 are the cause of holoprosencephaly type 7 (HPE7) [MIM:610828]. Holoprosencephaly (HPE) [MIM:236100] is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.
  • Sequence similarities

    Belongs to the patched family.
    Contains 1 SSD (sterol-sensing) domain.
  • Developmental stage

    In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud.
  • Post-translational
    modifications

    Glycosylation is necessary for SHH binding.
  • Cellular localization

    Membrane.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab131796 stained with Coomassie Blue.

References

ab131796 has not yet been referenced specifically in any publications.

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