Key features and details
- Rabbit polyclonal to Patched / PTCH1
- Suitable for: WB
- Reacts with: Mouse, Human
- Isotype: IgG
Product nameAnti-Patched / PTCH1 antibody
See all Patched / PTCH1 primary antibodies
DescriptionRabbit polyclonal to Patched / PTCH1
Tested applicationsSuitable for: WBmore details
Species reactivityReacts with: Mouse, Human
Predicted to work with: Rat, Sheep, Chicken, Gerbil
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Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Concentration information loading...
PurityProtein A purified
Our Abpromise guarantee covers the use of ab90438 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||1/500 - 1/1000. Predicted molecular weight: 161 kDa.|
FunctionActs 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 specificityIn 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 diseaseDefects 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 similaritiesBelongs to the patched family.
Contains 1 SSD (sterol-sensing) domain.
Developmental stageIn 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.
modificationsGlycosylation is necessary for SHH binding.
- Information by UniProt
- A230106A15Rik antibody
- BCNS antibody
- FLJ26746 antibody
ab90438 has not yet been referenced specifically in any publications.