Homeobox Genes and Human Genetic Disorders

Author(s): Yangu Zhao, Heiner Westphal

Journal Name: Current Molecular Medicine

Volume 2 , Issue 1 , 2002

Become EABM
Become Reviewer
Call for Editor


Homeobox genes encode transcriptional regulators of embryonic development. Many genetic disorders affecting multiple organ systems have been associated with a diverse array of mutations in one or another of at least 27 different members of this gene family. We briefly describe the affected genes and the major phenotypes presented by the patients that carry the mutations. Although cause-and-effect relationships are difficult to prove in human genetics, there is little doubt that the observed mutations play a crucial role in the etiology of the associated disorders. The impressive wealth of collected data greatly benefits genetic counseling and stimulates efforts to develop novel avenues of targeted therapy

Keywords: Homeobox Genes, Human Genetic Disorders, Bicoid, Dlx3 gene, Emx2 gene, Hox genes, Lim-homeobox gene, Msx genes, Nkx2-5 gene, Paired homeobox genes

open access plus

Rights & PermissionsPrintExport Cite as

Article Details

Year: 2002
Page: [13 - 23]
Pages: 11
DOI: 10.2174/1566524023363077

Article Metrics

PDF: 43