IHH Gene - Indian Hedgehog Signaling Molecule
Comprehensive gene card for IHH (Indian Hedgehog), a key regulator of endochondral ossification and skeletal development.
Gene Information Card
| Symbol | IHH |
|---|---|
| Full Name | Indian Hedgehog Signaling Molecule |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 3549 ncbi.nlm.nih.gov/gene/3549 |
| Ensembl ID | ENSG00000163501 |
| UniProt ID | Q14623 |
| OMIM ID | 600726 |
| HGNC ID | 5956 |
| Aliases | IHH, IHH1, BDA1, ACG1, MCOPCB6 |
Description
The IHH gene encodes Indian Hedgehog, a secreted signaling protein that belongs to the Hedgehog family. It plays a critical role in embryonic development, particularly in endochondral ossification, where it regulates chondrocyte differentiation and proliferation. IHH also functions in postnatal bone growth and maintenance. Mutations in IHH are associated with skeletal dysplasias such as brachydactyly type A1 and acrocallosal syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Brachydactyly type A1 | Loss-of-function mutations in IHH disrupt Hedgehog signaling, impairing digit development. | ClinVar, OMIM |
| Acrocallosal syndrome | Biallelic IHH mutations lead to severe skeletal and neurological abnormalities. | OMIM, ClinVar |
| Short stature | IHH variants affecting growth plate regulation result in reduced limb length. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.4 | Low |
| Cartilage | 2.1 | Medium |
| Lung | 0.1 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
| hTERT-HSC | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.283C>T (p.Arg95Cys) | Missense | Rare | Loss of function; associated with brachydactyly type A1 |
| c.331G>A (p.Glu111Lys) | Missense | Rare | Dominant negative effect; linked to acrocallosal syndrome |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish IHH protein activity, leading to brachydactyly type A1.
Gain of Function (GOF)
Not reported in IHH; gain-of-function is more common in other Hedgehog genes (e.g., SHH).
Dominant Negative (DN)
Certain missense mutations (e.g., p.Glu111Lys) interfere with wild-type IHH function, causing acrocallosal syndrome.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Endochondral ossification (Reactome: R-HSA-8948216)
Protein Summary
IHH is a 411-amino acid secreted glycoprotein that undergoes autoproteolytic cleavage to generate an N-terminal signaling domain and a C-terminal domain. The N-terminal fragment binds to the Patched receptor, activating the Hedgehog signaling cascade. IHH is essential for chondrocyte proliferation and differentiation in the growth plate, and its dysregulation leads to skeletal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IHH Knockout HEK293 Cell Line | EDJ-KQ3465 | Human | 3549 | Details Get a Quote |
| IHH Knockout HeLa Cell Line | EDJ-KQ53627 | Human | 3549 | Details Get a Quote |
| IHH Knockout A-549 Cell Line | EDJ-KQ62100 | Human | 3549 | Details Get a Quote |
| IHH Knockout HCT 116 Cell Line | EDJ-KQ70587 | Human | 3549 | Details Get a Quote |
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