DHH

DHH or Desert Hedgehog is a human gene that encodes for the protein Desert hedgehog. This protein is a member of the hedgehog signaling pathway and plays a key role in the development of various body structures. Mutations in this gene have been associated with several medical conditions, including gonadal dysgenesis, partial gonadal dysgenesis, and pallister-hall syndrome.

Function

The DHH gene provides instructions for making a protein called desert hedgehog. This protein is part of a signaling pathway that plays a crucial role in the growth and development of many parts of the body. The desert hedgehog protein is particularly important for the development of the gonads, which are the reproductive organs, and the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.

Clinical significance

Mutations in the DHH gene can lead to several medical conditions. These include gonadal dysgenesis, a condition characterized by underdeveloped or abnormal gonads, and partial gonadal dysgenesis, a milder form of the condition. Mutations in the DHH gene can also cause Pallister-Hall syndrome, a disorder characterized by a variety of symptoms including abnormal development of the pituitary gland, which regulates growth and controls other endocrine glands.

See also

• Hedgehog signaling pathway
• Gonadal dysgenesis
• Pallister-Hall syndrome

References

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