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The official name of this gene is “dedicator of cytokinesis 6.”
DOCK6 is the gene's official symbol. The DOCK6 gene is also known by other names, listed below.
The DOCK6 gene provides instructions for making a protein known as a guanine nucleotide exchange factor (GEF). GEFs turn on (activate) proteins called GTPases, which play an important role in chemical signaling within cells. Often referred to as molecular switches, GTPases can be turned on and off. GTPases are turned off (inactivated) when they are attached (bound) to a molecule called GDP and are activated when they are bound to another molecule called GTP. The DOCK6 protein activates GTPases known as Cdc42 and Rac1 by exchanging GTP for the attached GDP. Once Cdc42 and Rac1 are active, they transmit signals that are critical for various aspects of embryonic development. The DOCK6 protein appears to regulate these GTPases specifically during development of the limbs, skull, and heart. DOCK6 also plays a role in the development of fibers (axons) that extend from nerve cells.
Mutations in the DOCK6 gene cause Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. Neurological abnormalities, such as brain or eye malformations and intellectual disability, are more common in DOCK6-related Adams-Oliver syndrome than in cases associated with other genes. Most DOCK6 gene mutations involved in this condition lead to production of an abnormally short DOCK6 protein that is likely unable to function. Other mutations change single protein building blocks (amino acids) in the DOCK6 protein, which impairs the protein's normal function. The inability of DOCK6 to turn on Cdc42 or Rac1 leads to a reduction in their signaling, which impairs proper development of certain tissues, including the skin on the top of the head and the bones in the hands and feet.
Cytogenetic Location: 19p13.2
Molecular Location on chromosome 19: base pairs 11,199,293 to 11,262,501
The DOCK6 gene is located on the short (p) arm of chromosome 19 at position 13.2.
More precisely, the DOCK6 gene is located from base pair 11,199,293 to base pair 11,262,501 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about DOCK6 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; axons ; cytokinesis ; disability ; embryonic ; gene ; GTP ; guanine ; molecule ; neurological ; nucleotide ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.