Sonic hedgehog protein plays an important role in cell growth and specialization of cells. It also promotes the normal growth of the brain, spinal cord, eyes, limbs, and different other parts of the body (embryonic morphogenesis).
The SHH gene encodes the sonic hedgehog protein, which contains 462 amino acids.
The hedgehog protein (Hh protein) contains three genes, which include:
- Sonic hedgehog (SHH)
- Indian hedgehog (IHH)
- Desert hedgehog (DHH)
These three genes help signal molecules that are mainly involved in cell differentiation, proliferation, and survival from embryogenesis to the adult stages.
Any defects or abnormal expression of such genes results in various genetic disorders at different stages.
What are the functions of sonic hedgehog protein?
The following are the functions of sonic hedgehog protein:
- The SHH gene helps develop the brain, especially by separating the right and left sides of the brain.
- During the earlier developmental stages, cells that develop into the eyes form a single structure called the eye field. The SHH gene helps separate the eye field into two separate eyes.
What disorders are associated with the abnormal expression of the SHH gene?
An abnormal SHH gene expression results in various disorders, such as:
- Nonsyndromic holoprosencephaly
- About 100 mutations in the SHH gene result in nonsyndromic holoprosencephaly. It occurs when the brain fails to divide into two hemispheres during early development.
- SHH gene mutation destroys the activity of the sonic hedgehog protein. If the mutated gene is left uncorrected, the eye will not develop normally and the brain does not divide into two hemispheres. If the eyes are not in the right place, other parts of the face are affected.
- Coloboma
- Missing structures in one or both eyes. Colobomas appear as notches in the different parts of the eye. Large retinal colobomas can result in abnormal vision. Colobomas affecting the iris give a keyhole appearance to the pupil but do not cause any vision loss.
- Microphthalmia
- A few people with colobomas develop microphthalmia. One or both eyeballs are small or absent. The conditions result in significant vision loss.
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Medically Reviewed on 2/8/2023
References
Image Source: iStock image
SHH gene. https://medlineplus.gov/genetics/gene/shh/#conditions
Sonic Hedgehog Signaling in Limb Development. https://www.frontiersin.org/articles/10.3389/fcell.2017.00014/full
Hedgehog Signal and Genetic Disorders. https://www.frontiersin.org/articles/10.3389/fgene.2019.01103/full
SHH gene. https://medlineplus.gov/genetics/gene/shh/#conditions
Sonic Hedgehog Signaling in Limb Development. https://www.frontiersin.org/articles/10.3389/fcell.2017.00014/full
Hedgehog Signal and Genetic Disorders. https://www.frontiersin.org/articles/10.3389/fgene.2019.01103/full
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