IHH: Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP). Expressed in embryonic lung, and in adult kidney and liver. Belongs to the hedgehog family.
Chromosomal Location of Human Ortholog: 2q33-q35
Cellular Component: extracellular matrix; extracellular space; plasma membrane
Molecular Function: peptidase activity; patched binding; calcium ion binding
Biological Process: vitelline membrane formation; proteoglycan metabolic process; maternal process involved in pregnancy; positive regulation of collagen biosynthetic process; cell maturation; cell fate specification; proteolysis; embryonic pattern specification; response to estradiol stimulus; positive regulation of T cell differentiation in the thymus; smooth muscle development; cell-cell signaling; embryonic digestive tract morphogenesis; regulation of growth; pancreas development; positive regulation of mesenchymal cell proliferation; positive regulation of smoothened signaling pathway; heart looping; skeletal development; bone resorption; negative regulation of immature T cell proliferation in the thymus; smoothened signaling pathway; intein-mediated protein splicing; in utero embryonic development; multicellular organism growth; negative regulation of eye pigmentation; negative regulation of T cell differentiation in the thymus; negative regulation of signal transduction; osteoblast differentiation; patterning of blood vessels; positive regulation of chondrocyte differentiation; cartilage development; neuron development; positive regulation of transcription from RNA polymerase II promoter; embryonic camera-type eye morphogenesis; embryonic digit morphogenesis; positive regulation of epithelial cell proliferation; positive regulation of alpha-beta T cell differentiation; negative regulation of apoptosis; negative regulation of alpha-beta T cell differentiation
Disease: Brachydactyly, Type A1; Acrocapitofemoral Dysplasia
Show more