Recombinant人Patched / PTCH1 protein (ab114226)

概述

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionQ13635
    • 种属Human
    • 序列PKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQT GSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQAN
    • 分子量37 kDa including tags
    • 氨基酸841 to 940
    • 标签GST tag N-Terminus

技术指标

Our Abpromise guarantee covers the use of ab114226 in the following tested applications.

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

  • 应用

    ELISA

    SDS-PAGE

    Western blot

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    Best use within three months from the date of receipt of this protein.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    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

常规信息

  • 别名
    • 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
  • 功能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.
  • 组织特异性In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
  • 疾病相关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.
  • 序列相似性Belongs to the patched family.
    Contains 1 SSD (sterol-sensing) domain.
  • 发展阶段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.
  • 翻译后修饰Glycosylation is necessary for SHH binding.
  • 细胞定位Membrane.
  • Information by UniProt

Recombinant Human Patched / PTCH1 protein 图像

  • ab114226 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

Recombinant Human Patched / PTCH1 protein (ab114226)参考文献

ab114226 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab114226.
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"