DISEASES

Disease-gene associations mined from literature

Literature associating IHH and Hirschsprung's disease

IHH [ENSP00000295731]

Indian hedgehog protein C-product; 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).

Synonyms:  IHH,  Q14623,  Q14623p,  hQ14623,  3549 ...

Linkouts:  STRING  Pharos  UniProt  OMIM