Product Overview
Description
CLPP-00150969 is recombinant human PTCH1 protein
Applications
ELISA, SDS-PAGE, Western Blot
Protein Length
Protein fragment
Nature
Recombinant Protein
Sequence
MGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLL
Sequence Similarities
Belongs to the patched family. Contains 1 SSD (sterol-sensing) domain.
Predicted Molecular Weight
47 kDa including tags
Target Information
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
Protein 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); 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) .Defects in PTCH1 are the cause of holoprosencephaly type 7 (HPE7). Holoprosencephaly (HPE)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.
Shipping & Handling
Constituents
0.31% Glutathione, 0.79% Tris HCl.
Shipping
Shipped on dry ice.
