DYNC1H1 gene

dynein cytoplasmic 1 heavy chain 1

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.

Genetics Home Reference provides information about Charcot-Marie-Tooth disease.

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: 14q32.31, which is the long (q) arm of chromosome 14 at position 32.31

Molecular Location: base pairs 101,964,528 to 102,050,798 on chromosome 14 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 14q32.31, which is the long (q) arm of chromosome 14 at position 32.31
  • cytoplasmic dynein 1 heavy chain 1
  • cytoplasmic dynein heavy chain 1
  • DHC1
  • DHC1a
  • DNCH1
  • Dnchc1
  • DNCL
  • DYHC
  • dynein heavy chain, cytosolic
  • dynein, cytoplasmic 1, heavy chain 1
  • dynein, cytoplasmic, heavy polypeptide 1
  • HL-3
  • p22