DYNC1H1

Reviewed January 2013

What is the official name of the DYNC1H1 gene?

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.

What is the normal function of the DYNC1H1 gene?

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.

Does the DYNC1H1 gene share characteristics with other 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.

How are changes in the DYNC1H1 gene related to health conditions?

spinal muscular atrophy - caused by mutations in the DYNC1H1 gene: 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.

Where is the DYNC1H1 gene located?

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.

Where can I find additional information about DYNC1H1?

You and your healthcare professional may find the following resources about DYNC1H1 helpful.

Educational resources - Information pages
- Basic Neurochemistry (sixth edition, 1999): Cytoplasmic Dyneins May Have Multiple Roles in the Neuron (http://www.ncbi.nlm.nih.gov/books/NBK27955/)
- Molecular Cell Biology (fourth edition, 2002): A General Model for Kinesin- and Dynein-Mediated Transport in a Typical Cell (figure) (http://www.ncbi.nlm.nih.gov/books/NBK21710/figure/A5469/?report=objectonly)
- The Cell: A Molecular Approach (second edition, 2000): Microtubule Motor Proteins (figure) (http://www.ncbi.nlm.nih.gov/books/NBK9833/figure/A1835/)
- The Cell: A Molecular Approach (second edition, 2000): Organelle Transport and Intracellular Organization (http://www.ncbi.nlm.nih.gov/books/NBK9833/)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1285/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for DYNC1H1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1778%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(DYNC1H1%5BTIAB%5D)%20OR%20(cytoplasmic%20dynein%20heavy%20chain%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/600112)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1778)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1778)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2961)

What other names do people use for the DYNC1H1 gene or gene products?

cytoplasmic dynein 1 heavy chain 1
cytoplasmic dynein heavy chain 1
DHC1
DHC1a
DNCH1
Dnchc1
DNCL
DNECL
DYHC
DYHC1_HUMAN
dynein, cytoplasmic, heavy polypeptide 1
dynein heavy chain, cytosolic
HL-3
p22

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DYNC1H1?

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).

References

Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1778)
Eschbach J, Dupuis L. Cytoplasmic dynein in neurodegeneration. Pharmacol Ther. 2011 Jun;130(3):348-63. doi: 10.1016/j.pharmthera.2011.03.004. Epub 2011 Mar 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21420428?dopt=Abstract)
Harms MB, Allred P, Gardner R Jr, Fernandes Filho JA, Florence J, Pestronk A, Al-Lozi M, Baloh RH. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c. (http://www.ncbi.nlm.nih.gov/pubmed/20697106?dopt=Abstract)
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28. (http://www.ncbi.nlm.nih.gov/pubmed/22459677?dopt=Abstract)
Levy JR, Holzbaur EL. Cytoplasmic dynein/dynactin function and dysfunction in motor neurons. Int J Dev Neurosci. 2006 Apr-May;24(2-3):103-11. Epub 2006 Jan 6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16406469?dopt=Abstract)
OMIM: DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1 (http://omim.org/entry/600112)
Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002. Epub 2011 Aug 4. (http://www.ncbi.nlm.nih.gov/pubmed/21820100?dopt=Abstract)

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.