HOXC13
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Homeobox protein Hox-C13 is a protein that in humans is encoded by the HOXC13 gene.[5][6][7]
Structure
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12.[7]
HOXC13 is positioned toward the 5' end of the HOXC cluster.
Function
The product of this gene may play a role in the development of hair, nail, and filiform papilla.[7]
HOX gene expression follows a principle called collinearity]: genes at the 3' end are expressed earlier and more anteriorly, while those at the 5' end are expressed in more posterior or distal structures.[8] As a result, the HOXC13 gene is primarily involved in the development and differentiation of ectodermal structures rather than early axial patterning.
Clinical significance
Mutations in HOXC13 can lead to disruptions in the transcription factors the gene is associated with, particularly being linked to Pure hair-nail type ectodermal dysplasia.[9] Research suggests that disruptions in mRNA decay are the root cause of a failure to properly develop hair follicles, nails, sebaceous glands, and other ectodermal structures. These effects are a result of a nonsense mutation in HOXC13 that codes for a protein without a C-terminal homeodomain and undergoes total loss-of-function. The mutation has no effects on any other organ systems and is limited to ectodermal structures.[9]
