HOXC13

HOXC13 is a gene that belongs to the homeobox gene family. The proteins encoded by these genes are transcription factors that play a crucial role in morphogenesis and cell differentiation during embryonic development. The HOXC13 gene, in particular, is known to be involved in hair and nail formation.

Structure

The HOXC13 gene is located on the long (q) arm of chromosome 12 at position 13. The precise location is denoted as 12q13.13. The gene spans approximately 31.6 kilobases and comprises two exons.

Function

The HOXC13 protein is a transcription factor that binds to specific DNA sequences, thereby controlling the transcription of genetic information from DNA to mRNA. It is primarily involved in the development of hair follicles and nails. Mutations in this gene have been associated with pure hair and nail ectodermal dysplasia, a condition characterized by hair and nail abnormalities.

Clinical Significance

Mutations in the HOXC13 gene can lead to several medical conditions. For instance, a specific mutation in this gene has been linked to hand-foot-genital syndrome, a rare disorder characterized by limb and genital abnormalities. Additionally, mutations in HOXC13 have been associated with ectodermal dysplasia, a group of conditions affecting the skin, hair, nails, and sweat glands.

Research

Research on the HOXC13 gene is ongoing, with scientists exploring its role in various biological processes and diseases. For example, some studies are investigating the gene's role in cancer, as it has been found to be overexpressed in certain types of tumors.

See Also

• Homeobox
• Transcription factor
• Chromosome 12
• Ectodermal dysplasia
• Hand-foot-genital syndrome