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DOCK6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DOCK6 gene

The DOCK6 gene provides instructions for a protein that regulates cell signaling pathways critical for embryonic development and nerve cell growth.

Normal Function

The DOCK6 gene provides instructions for making a protein known as a guanine nucleotide exchange factor (GEF). GEFs activate proteins called GTPases, which act as molecular switches in cellular chemical signaling. DOCK6 specifically activates GTPases known as Cdc42 and Rac1 by exchanging GDP for GTP.

Once active, Cdc42 and Rac1 transmit signals critical for embryonic development, particularly in the limbs, skull, and heart. DOCK6 also plays a role in the development of fibers (axons) that extend from nerve cells.

Health Conditions Related to Genetic Changes

Adams-Oliver syndrome

Mutations in the DOCK6 gene cause Adams-Oliver syndrome, a condition characterized by:

  • Areas of missing skin (aplasia cutis congenita), usually on the scalp
  • Malformations of the hands and feet
  • Neurological abnormalities, such as brain or eye malformations
  • Intellectual disability

Most DOCK6 mutations lead to the production of an abnormally short, non-functional protein, or change single amino acids, impairing the protein's function. The resulting inability to activate Cdc42 or Rac1 reduces signaling, which impairs the development of the skin, bones, and other tissues.

Other Names for This Gene

  • AOS2
  • dedicator of cytokinesis protein 6
  • DOCK6_HUMAN
  • KIAA1395
  • ZIR1

Frequently Asked Questions

The most common early sign of Adams-Oliver syndrome (AOS) is aplasia cutis congenita, which presents as areas of missing skin, typically on the scalp, often at the crown. These areas can range from small to large and may be covered by a thin membrane. Additionally, malformations of the hands and feet, such as missing fingers or toes, or shortened limbs, are frequently observed at birth.
The severity of neurological abnormalities in DOCK6-related Adams-Oliver syndrome can vary widely. While some individuals may have brain or eye malformations and intellectual disability, others might experience milder or no significant neurological issues. Intellectual disability is not always present and can range from mild to severe when it does occur. Comprehensive neurological evaluation is important for each affected individual.
Managing Adams-Oliver syndrome (AOS) usually requires a multidisciplinary team. This may include dermatologists for skin lesions, orthopedic surgeons for limb malformations, neurologists for brain or eye abnormalities, and developmental pediatricians or therapists for intellectual disability and developmental delays. Treatment focuses on surgical correction of malformations, wound care for skin defects, and supportive therapies to maximize function and development.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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