Aliases for IHH Gene
External Ids for IHH Gene
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]
GeneCards Summary for IHH Gene
IHH (Indian Hedgehog) is a Protein Coding gene. Diseases associated with IHH include acrocapitofemoral dysplasia and brachydactyly, type a1. Among its related pathways are Signaling by GPCR and ERK Signaling. GO annotations related to this gene include calcium ion binding and patched binding. An important paralog of this gene is SHH.
UniProtKB/Swiss-Prot 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).