HOXD1

HOXD1 is a gene that in humans is encoded by the HOXD1 protein. This gene is a member of the homeobox gene family, which are critical in body plan formation and segmentation during embryonic development.

Function

The HOXD1 gene is part of the HOXD gene cluster, which is located on the long arm of chromosome 2 (2q31-q32) in humans. The HOXD gene cluster is one of four similar clusters that are thought to have evolved from a single ancestral cluster. The genes in these clusters encode transcription factors that regulate the expression of other genes, controlling the development of specific structures in the body.

HOXD1 is expressed in the posterior region of the developing embryo, including the hindbrain, spinal cord, and limbs. It plays a crucial role in the development of these structures, particularly in the formation of the vertebral column and the appendicular skeleton.

Clinical significance

Mutations in the HOXD1 gene have been associated with several congenital disorders, including hand-foot-genital syndrome and synpolydactyly. These conditions are characterized by abnormalities in the development of the hands, feet, and genitalia.

See also

• Homeobox
• HOXD
• Chromosome 2

References

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.