| Gene Symbol | SHH |
|---|---|
| Entrez Gene | 6469 |
| Alt Symbol | HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS |
| Species | Human |
| Gene Type | protein-coding |
| Description | sonic hedgehog |
| Other Description | sonic hedgehog homolog|sonic hedgehog protein |
| Swissprots | A4D247 Q15465 Q75MC9 |
| Accessions | AAB67604 AAQ87879 AAS01990 ADL14518 BAA34689 EAL23913 EAX04543 Q15465 AY927450 AY927451 AY927452 AY927453 AY927455 BC111925 AAI11926 L38518 AAA62179 XM_011516479 XP_011514781 XM_011516480 XP_011514782 XM_011516481 XP_011514783 XM_011516482 XP_011514784 NM_000193 NP_000184 |
| Function | Intercellular signal essential for a variety of patterning events during development: signal produced by the notochord that induces ventral cell fate in the neural tube and somites, and the polarizing signal for patterning of the anterior- posterior axis of the developing limb bud. Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of N-product required for motor neuron induction is 5-fold lower than that required for floor plate induction. Activates the transcription of target genes by interacting with its receptor PTCH1 to prevent normal inhibition by PTCH1 on the constitutive signaling activity of SMO (By similarity). {ECO:0000250}. |
| Subcellular Location | Sonic hedgehog protein C-product: Secreted, extracellular space {ECO:0000250}. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}. |
| Tissue Specificity | Expressed in fetal intestine, liver, lung, and kidney. Not expressed in adult tissues. |
| Top Pathways | Hedgehog signaling pathway, Basal cell carcinoma |