Short stature homeobox gene

Short stature homeobox gene (SHOX)

Short stature homeobox gene (SHOX), pronounced as /ʃɒks/, is a gene that is associated with the growth and development of the human body. The term originates from the words "short stature" referring to the condition it primarily affects, and "homeobox," a DNA sequence found within genes that are involved in the regulation of development (morphogenesis) in animals, fungi and plants.

Function

The SHOX gene provides instructions for creating a protein that is involved in bone development and growth. This protein plays a crucial role in the growth and development of bones in the arms and legs, and is particularly important for the development of the ends of the long bones.

Genetic Changes

Mutations in the SHOX gene can lead to a variety of conditions that affect height, such as Léri-Weill dyschondrosteosis (LWD), Turner syndrome, and Langer mesomelic dysplasia (LMD). These conditions are characterized by short stature and skeletal abnormalities.

Associated Conditions

Léri-Weill dyschondrosteosis (LWD): This condition is characterized by short stature and an abnormality of the wrist bones called Madelung deformity.
Turner syndrome: This condition affects only females and is characterized by short stature and the lack of sexual development at puberty.
Langer mesomelic dysplasia (LMD): This is a very rare condition characterized by extremely short stature and severe limb abnormalities.

Related Terms

Homeobox: A DNA sequence found within genes that are involved in the regulation of development (morphogenesis) in animals, fungi and plants.
Gene: The basic physical and functional unit of heredity. Genes are made up of DNA.
Mutation: A change in a DNA sequence, usually occurring because of errors in replication or repair.
Protein: A molecule composed of polymers of amino acids joined together by peptide bonds.