Aristaless related homeobox

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Aristaless related homeobox

The Aristaless related homeobox (pronunciation: a-ris-ta-less re-lay-ted ho-me-o-box), also known as ARX, is a protein that in humans is encoded by the ARX gene.

Etymology

The term "Aristaless" originates from the Drosophila gene "Aristaless", which was first identified in fruit flies. The term "homeobox" refers to a DNA sequence, known as a homeobox, found within genes that are involved in the regulation of patterns of anatomical development (morphogenesis) in animals, fungi and plants.

Function

The ARX gene belongs to the homeobox family of genes. The encoded protein functions as a transcription factor and may play a role in brain and pancreas development. Mutations in this gene can cause X-linked mental retardation, epilepsy, autism, and dysarthria.

Related Terms

  • Homeobox: A DNA sequence found within genes that are involved in the regulation of development (morphogenesis) in animals, fungi and plants.
  • Transcription factor: A protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence.
  • X-linked: A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation.
  • Epilepsy: A neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain.
  • Autism: A developmental disorder of variable severity that is characterized by difficulty in social interaction and communication and by restricted or repetitive patterns of thought and behavior.
  • Dysarthria: A condition in which the muscles you use for speech are weak or you have difficulty controlling them.

External links

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