Aliases for IHH Gene
External Ids for IHH Gene
Previous GeneCards Identifiers for IHH Gene
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]
GeneCards Summary for IHH Gene
IHH (Indian Hedgehog Signaling Molecule) is a Protein Coding gene. Diseases associated with IHH include Acrocapitofemoral Dysplasia and Brachydactyly, Type A1. Among its related pathways are Presynaptic function of Kainate receptors and Proteoglycans in cancer. Gene Ontology (GO) annotations related to this gene include calcium ion binding and patched binding. An important paralog of this gene is SHH.
UniProtKB/Swiss-Prot Summary for IHH Gene
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) (By similarity).