Patched 1 (PTCH1) Antibody – Rabbit Polyclonal

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

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; Membrane protein, integral; Membrane protein, multi-pass; Tumor suppressor

Chromosomal Location of Human Ortholog: 9q22.32

Cellular Component: caveola; Golgi apparatus; integral component of membrane; intracellular membrane-bound organelle; midbody; nucleus; 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; branching involved in ureteric bud morphogenesis; 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-templated; prostate gland development; 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; response to mechanical stimulus; response to retinoic acid; smoothened signaling pathway; spinal cord motor neuron differentiation

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