PTCH1 Antibody – Goat Polyclonal

This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]

PTCH1: a multi-pass membrane protein member of the ?patched? family that 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 protein?s signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. Interacts with SNX17. Expressed in tumor cells but not in normal skin. 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. Defects in PTCH1 are the cause of basal cell nevus syndrome (BCNS), also known as Gorlin syndrome. BCNS is an autosomal dominant disease characterized by nevoid basal cell carcinomas 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, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. PTCH1 defects is also the cause of holoprosencephaly, the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres.

Protein type: Cell cycle regulation; Tumor suppressor; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 9q22.3

Cellular Component: caveola; Golgi apparatus; integral to membrane; intracellular membrane-bound organelle; midbody; perinuclear region of cytoplasm; plasma membrane; postsynaptic density

Molecular Function: cholesterol binding; cyclin binding; hedgehog receptor activity; heparin binding; patched binding; protein binding; protein complex binding; smoothened binding

Biological Process: brain development; cell fate determination; dorsal/ventral pattern formation; embryonic limb morphogenesis; embryonic organ development; epidermal cell fate specification; glucose homeostasis; heart morphogenesis; hindlimb morphogenesis; in utero embryonic development; keratinocyte proliferation; limb morphogenesis; negative regulation of cell division; negative regulation of epithelial cell proliferation; negative regulation of multicellular organism growth; negative regulation of osteoblast differentiation; negative regulation of smoothened signaling pathway; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; neural plate pattern formation; neural tube closure; neural tube patterning; organ morphogenesis; pharyngeal system development; positive regulation of epidermal cell differentiation; positive regulation of transcription, DNA-dependent; protein processing; regulation of mitotic cell cycle; regulation of protein localization; regulation of smoothened signaling pathway; response to chlorate; response to drug; response to estradiol stimulus; response to mechanical stimulus; response to retinoic acid; smoothened signaling pathway; spinal cord motor neuron differentiation; ureteric bud branching

Disease: Basal Cell Carcinoma, Susceptibility To, 1; Basal Cell Nevus Syndrome; Holoprosencephaly 7