DHH (hedgehog)

Desert hedgehog protein (DHH) is a member of the hedgehog signaling pathway, which plays a crucial role in embryonic development. The DHH gene is located on the chromosome 12 in humans and is involved in the regulation of cell growth, cell specialization, and the overall patterning of the body plan.

Function

The DHH protein is essential for the proper development of the gonads and is particularly important in the differentiation of Sertoli cells in the testes. It is also involved in the development of the peripheral nervous system and the skeletal system.

Clinical significance

Mutations in the DHH gene can lead to a condition known as 46,XY gonadal dysgenesis, which is characterized by the underdevelopment of male gonads. This condition can result in ambiguous genitalia or complete gonadal dysgenesis.

Pathway

The hedgehog signaling pathway, which includes DHH, is a key regulator of cell differentiation and tissue patterning during embryogenesis. The pathway involves the interaction of hedgehog proteins with the Patched receptor, leading to the activation of the Smoothened receptor and subsequent intracellular signaling cascades.

See also

• Sonic hedgehog
• Indian hedgehog
• Hedgehog signaling pathway

External links

• DHH gene - NCBI
• DHH protein - UniProt