Indian Hedgehog (IHH) Human Active Protein

This gene encodes a member of the hedgehog family of secreted signaling molecules. Hedgehog proteins are essential regulators of a variety of developmental processes including growth, patterning and morphogenesis. The encoded protein specifically plays a role in bone growth an differentiation. Mutations in this gene are the cause of brachydactyly type A1 which is characterized by shortening or malformation of the phalanges. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Feb 2010]

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; cell maturation; positive regulation of collagen biosynthetic process; cell fate specification; embryonic pattern specification; proteolysis; 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; patterning of blood vessels; osteoblast differentiation; positive regulation of chondrocyte differentiation; cartilage development; neuron development; positive regulation of transcription from RNA polymerase II promoter; embryonic digit morphogenesis; embryonic camera-type eye morphogenesis; positive regulation of alpha-beta T cell differentiation; positive regulation of epithelial cell proliferation; negative regulation of alpha-beta T cell differentiation; negative regulation of apoptosis

Disease: Brachydactyly, Type A1; Acrocapitofemoral Dysplasia