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, movement of structures within the cell, and many other cell processes. Dynein helps neighboring nerve cells (neurons) 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 nucleus, 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.
Other Names
cytoplasmic dynein 1 heavy chain 1; cytoplasmic dynein heavy chain 1; DHC1; DHC1a; DNCH1; Dnchc1; DNCL; DNECL; DYHC; DYHC1_HUMAN; dynein heavy chain, cytosolic; dynein, cytoplasmic 1, heavy chain 1; dynein, cytoplasmic, heavy polypeptide 1; HL-3; p22
Related Genetics Topics
- Charcot-Marie-Tooth disease — MedlinePlus Genetics
- Spinal muscular atrophy with lower extremity predominance — MedlinePlus Genetics
Identifiers
- NCBI Gene: 1778
- OMIM: 600112
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
