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The official name of this gene is “dynein, cytoplasmic 1, heavy chain 1.”
DYNC1H1 is the gene's official symbol. The DYNC1H1 gene is also known by other names, listed below.
The DYNC1H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex is found in the fluid inside cells (cytoplasm). Dynein is turned on (activated) by attaching (binding) to another complex called dynactin. This dynein-dynactin complex binds to various materials within cells. Using energy provided by molecules called ATP, the dynein-dynactin complex moves material along a track-like system of small tubes called microtubules, similar to a conveyer belt. The dynein-dynactin complex is necessary for protein transport, positioning of cell compartments, mobility of structures within the cell, and many other cell processes. In nerve cells (neurons), dynein helps neighboring cells communicate by transporting sac-like structures called synaptic vesicles that contain chemical messengers. When synaptic vesicles are passed from one neuron to another, the dynein-dynactin complex transports the vesicle from the edge of the cell to the center where the chemical message is received.
The parts (subunits) of a dynein complex are classified by weight as heavy, intermediate, light intermediate, or light chains. Two heavy chain proteins bind together to form the core of the dynein complex. Combinations of intermediate, light intermediate, and light chains make up the rest of the complex. The protein produced from the DYNC1H1 gene is a heavy chain. Other subunits are produced from different genes.
The DYNC1H1 gene belongs to a family of genes called DYN (cytoplasmic dyneins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least three mutations in the DYNC1H1 gene have been found to cause a condition called spinal muscular atrophy, lower extremity, dominant (SMA-LED). This form of spinal muscular atrophy is characterized by leg muscle weakness that is most severe in the thigh muscles (quadriceps). The DYNC1H1 gene mutations that cause SMA-LED replace single protein building blocks (amino acids) in the heavy chain subunit of the dynein complex. These changes disrupt the core of the dynein complex and impair its function. As a result, the movement of proteins, synaptic vesicles, and other materials within cells is reduced. A loss of synaptic vesicle transport in neurons that control muscle movement is thought to contribute to the muscle weakness experienced by people with SMA-LED. It is unclear why this condition affects only the lower extremities.
Cytogenetic Location: 14q32
Molecular Location on chromosome 14: base pairs 102,430,864 to 102,517,134
The DYNC1H1 gene is located on the long (q) arm of chromosome 14 at position 32.
More precisely, the DYNC1H1 gene is located from base pair 102,430,864 to base pair 102,517,134 on chromosome 14.
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 DYNC1H1 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 ; ATP ; atrophy ; cell ; cytoplasm ; gene ; neuron ; protein ; subunit ; synaptic vesicles ; vesicle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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.