DMRT1

DMRT1 (Doublesex and Mab-3 Related Transcription Factor 1) is a gene that encodes a protein involved in sexual development in humans and other animals. This gene is part of the DMRT gene family, which is named for its two key members: doublesex in Drosophila and mab-3 in Caenorhabditis elegans.

Function[edit | edit source]

The DMRT1 gene provides instructions for making a protein that plays a crucial role in the development of male sexual characteristics. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. In particular, the DMRT1 protein appears to be essential for the development and maintenance of Sertoli cells, which are specialized cells in the testes that are necessary for normal male sexual development.

Clinical significance[edit | edit source]

Mutations in the DMRT1 gene can lead to disorders of sex development (DSDs), including gonadal dysgenesis and testicular regression syndrome. These conditions are characterized by atypical development of sexual characteristics and can lead to infertility.