Indian Hedgehog (IHH) ELISA Kit for Human

This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]

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: 2q35

Cellular Component: extracellular space; plasma membrane; proteinaceous extracellular matrix

Molecular Function: calcium ion binding; patched binding; peptidase activity

Biological Process: bone resorption; branching involved in blood vessel morphogenesis; cell fate specification; cell maturation; cell-cell signaling; embryonic camera-type eye morphogenesis; embryonic digestive tract morphogenesis; embryonic digit morphogenesis; embryonic pattern specification; heart looping; in utero embryonic development; intein-mediated protein splicing; maternal process involved in female pregnancy; multicellular organism growth; negative regulation of alpha-beta T cell differentiation; negative regulation of apoptosis; negative regulation of eye pigmentation; negative regulation of immature T cell proliferation in the thymus; negative regulation of T cell differentiation in thymus; neuron development; osteoblast differentiation; pancreas development; positive regulation of alpha-beta T cell differentiation; positive regulation of collagen biosynthetic process; positive regulation of epithelial cell proliferation; positive regulation of mesenchymal cell proliferation; positive regulation of smoothened signaling pathway; positive regulation of T cell differentiation in thymus; positive regulation of transcription from RNA polymerase II promoter; proteoglycan metabolic process; regulation of growth; response to estradiol; response to mechanical stimulus; skeletal system development; smooth muscle development; smoothened signaling pathway; vitelline membrane formation

Disease: Acrocapitofemoral Dysplasia; Brachydactyly, Type A1